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1. Berkhout M, Nagtegaal ID, Cornelissen SJ, Dekkers MM, van de Molengraft FJ, Peters WH, Nagengast FM, van Krieken JH, Jeuken JW: Chromosomal and methylation alterations in sporadic and familial adenomatous polyposis-related duodenal carcinomas. Mod Pathol; 2007 Dec;20(12):1253-62
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Chromosomal and methylation alterations in sporadic and familial adenomatous polyposis-related duodenal carcinomas.
  • Primary carcinomas of the small intestine are rare and the mechanism of their pathogenesis is poorly understood.
  • Patients with familial adenomatous polyposis (FAP) have a high risk of developing duodenal carcinomas.
  • Therefore, five FAP-related duodenal carcinomas were characterized for chromosomal and methylation alterations, which were compared to those observed in sporadic duodenal carcinomas.
  • Comparative genomic hybridization (CGH) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed in 10 primary sporadic and five primary FAP-related duodenal carcinomas.
  • In the FAP-related carcinomas, frequent gains were observed on chromosomes 8, 17 and 19, whereas in sporadic carcinomas they occurred on chromosomes 8, 12, 13 and 20.
  • In 60% of the sporadic carcinomas, gains in the regions of chromosome 12 were observed which were absent in the FAP-related carcinomas (P=0.04).
  • Hypermethylation was observed in the immunoglobulin superfamily genes member 4 (IGSF4), TIMP metallopeptidase inhibitor 3 (TIMP3), Estrogen receptor 1 (ESR1), adenomatous polyposis coli (APC), H-cadherin (CDH13) and paired box gene 6 (PAX6) genes.
  • Hypermethylation of PAX6 was only observed in FAP-related carcinomas (3/5) and not in sporadic carcinomas (P=0.02).
  • In conclusion, in contrast to sporadic duodenal carcinomas, gains on chromosome 12 were not observed in duodenal carcinomas of patients with FAP.
  • Identification of the genes in these regions of chromosome 12 could lead to a better understanding of the carcinogenesis pathways leading to sporadic and FAP-related duodenal carcinomas.
  • Furthermore, hypermethylation seems to be a general feature of both FAP-related duodenal carcinomas as well as sporadic duodenal carcinomas with the exception of the PAX6 gene, which is methylated only in FAP-related carcinomas.
  • [MeSH-major] Adenocarcinoma / genetics. Adenomatous Polyposis Coli / genetics. Chromosome Aberrations. DNA Methylation. Duodenal Neoplasms / genetics


2. Liau SS, Jah A, Huguet E, Jamieson N, Praseedom R: A useful reconstruction arrangement following Whipple's resection for patients with familial adenomatous polyposis. Ann R Coll Surg Engl; 2009 Oct;91(7):618-9
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A useful reconstruction arrangement following Whipple's resection for patients with familial adenomatous polyposis.
  • [MeSH-major] Adenomatous Polyposis Coli / surgery. Pancreaticoduodenectomy / methods. Polyps / diagnosis

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  • [Cites] Dis Colon Rectum. 1996 Apr;39(4):384-7 [8878496.001]
  • (PMID = 19842250.001).
  • [ISSN] 1478-7083
  • [Journal-full-title] Annals of the Royal College of Surgeons of England
  • [ISO-abbreviation] Ann R Coll Surg Engl
  • [Language] eng
  • [Publication-type] Journal Article; Technical Report
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2966175
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3. Aretz S, Hes FJ: Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. Eur J Hum Genet; 2010 Sep;18(9)

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. DNA Glycosylases / genetics

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  • (PMID = 20512164.001).
  • [ISSN] 1476-5438
  • [Journal-full-title] European journal of human genetics : EJHG
  • [ISO-abbreviation] Eur. J. Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.2.2.- / DNA Glycosylases; EC 3.2.2.- / mutY adenine glycosylase
  • [Other-IDs] NLM/ PMC2987420
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4. Iwama T: [Gene mutations in and physiopathology of familial adenomatous polyposis and hereditary non-polyposis colorectal cancer]. Nihon Naika Gakkai Zasshi; 2007 Feb 10;96(2):207-12
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  • [Title] [Gene mutations in and physiopathology of familial adenomatous polyposis and hereditary non-polyposis colorectal cancer].
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli / physiopathology. Colorectal Neoplasms, Hereditary Nonpolyposis / genetics. Colorectal Neoplasms, Hereditary Nonpolyposis / physiopathology. DNA Glycosylases / genetics
  • [MeSH-minor] DNA Mismatch Repair. DNA Replication / genetics. Genes, APC. Humans. Mutation


5. Kanter-Smoler G, Fritzell K, Rohlin A, Engwall Y, Hallberg B, Bergman A, Meuller J, Grönberg H, Karlsson P, Björk J, Nordling M: Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. BMC Med; 2008;6:10

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
  • BACKGROUND: The dominantly inherited condition familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene.
  • Finding the causative mutations has great implications for the families.
  • Correlating the genotypes to the phenotypes could help to improve the diagnosis and follow-up of patients.
  • METHODS: Mutation screening of APC and the clinical characterization of 96 unrelated FAP patients from the Swedish Polyposis Registry was performed.
  • In addition to generally used mutation screening methods, analyses of splicing-affecting mutations and investigations of the presence of low-frequency mutation alleles, indicating mosaics, have been performed, as well as quantitative real-time polymerase chain reaction to detect lowered expression of APC.
  • RESULTS: Sixty-one different APC mutations in 81 of the 96 families were identified and 27 of those are novel.
  • Probands with a genotype (codon 1250-1464) predicting a severe phenotype had a median age at diagnosis of 21.8 (range, 11-49) years compared with 34.4 (range, 14-57) years among those with mutations outside this region (P < 0.017).
  • Dense polyposis (> 1000) occurred in 75% of the probands with a severe phenotype compared with 30% in those with mutations outside this region.
  • CONCLUSION: Using a variety of mutation-detection techniques, we have achieved a 100% detection frequency in classical FAP.
  • Probands with APC mutations outside codon 1250-1464, although exhibiting a less-severe phenotype, are at high risk of having a colorectal cancer at diagnosis indicating that age at diagnosis is as important as the severity of the disease for colorectal cancer morbidity.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Genes, APC. Sequence Deletion

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  • (PMID = 18433509.001).
  • [ISSN] 1741-7015
  • [Journal-full-title] BMC medicine
  • [ISO-abbreviation] BMC Med
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.2.2.- / DNA Glycosylases; EC 3.2.2.- / mutY adenine glycosylase
  • [Other-IDs] NLM/ PMC2386495
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6. Signoroni S, Vitellaro M, Sala P, Bertario L: Biomarkers in familial adenomatous polyposis: role and significance. Front Biosci (Schol Ed); 2010;2:413-21
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Biomarkers in familial adenomatous polyposis: role and significance.
  • A biomarker, according to a generally accepted definition, is a substance or a manifestation used as indicator of a biologic state.
  • Clinical and genetic biomarkers are essential to properly individuate the disease, to address patients to specific surveillance programs and therapeutic strategies.
  • Coming from these considerations, several of the known genetic pathways in cancer pathogenesis could be considerate potential candidate biomarkers.
  • In this review, we have reported clinical and molecular biomarkers helpful to manage the Familial Adenomatous Polyposis (FAP), a dominantly inherited colorectal cancer predisposition syndrome.
  • Biomarkers, both clinical and molecular, are essential to reduce the high potential morbidity of FAP giving the opportunity to develop innovative diagnostic and therapeutic protocols.
  • [MeSH-major] Adenomatous Polyposis Coli / diagnosis. Adenomatous Polyposis Coli / metabolism. Biomarkers, Tumor / genetics. Biomarkers, Tumor / metabolism. Cyclooxygenase 2 / metabolism. Mutation / genetics

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  • (PMID = 20036957.001).
  • [ISSN] 1945-0524
  • [Journal-full-title] Frontiers in bioscience (Scholar edition)
  • [ISO-abbreviation] Front Biosci (Schol Ed)
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; EC 1.14.99.1 / Cyclooxygenase 2
  • [Number-of-references] 50
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7. Ulaş M, Neşşar G, Bostanoğlu A, Aydoğ G, Kayaalp C, Ozoğul Y, Seven C: Development of two cancers in the same patient after ileorectal and ileal pouch anal anastomosis for familial adenomatous polyposis. Med Princ Pract; 2006;15(1):83-6
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Development of two cancers in the same patient after ileorectal and ileal pouch anal anastomosis for familial adenomatous polyposis.
  • OBJECTIVE: To report a case of a patient with familial adenomatous polyposis.
  • CLINICAL PRESENTATION AND INTERVENTION: A 36-year-old male patient who suffered from rectal bleeding was treated with colectomy and ileorectal anastomosis for familial adenomatous polyposis (FAP) in 1974.
  • CONCLUSION: This case shows that lifetime surveillance of the FAP patients after surgery is crucial.
  • [MeSH-major] Adenocarcinoma, Mucinous / diagnosis. Adenomatous Polyposis Coli / surgery. Anal Canal / surgery. Carcinoma, Squamous Cell / diagnosis. Colonic Neoplasms / complications. Ileostomy

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  • (PMID = 16340235.001).
  • [ISSN] 1011-7571
  • [Journal-full-title] Medical principles and practice : international journal of the Kuwait University, Health Science Centre
  • [ISO-abbreviation] Med Princ Pract
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
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8. Spigelman A, Gani J: Pylorus-preserving pancreaticoduodenectomy for advanced duodenal disease in familial adenomatous polyposis (Br J Surg 2004; 91: 1157-1164). Br J Surg; 2005 Feb;92(2):253
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pylorus-preserving pancreaticoduodenectomy for advanced duodenal disease in familial adenomatous polyposis (Br J Surg 2004; 91: 1157-1164).
  • [MeSH-major] Adenomatous Polyposis Coli / surgery. Duodenal Neoplasms / surgery. Pancreaticoduodenectomy / methods


9. Ruys AT, Alderlieste YA, Gouma DJ, Dekker E, Mathus-Vliegen EM: Jejunal cancer in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol; 2010 Aug;8(8):731-3
The Weizmann Institute of Science GeneCards and MalaCards databases. gene/protein/disease-specific - MalaCards for jejunal cancer .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Jejunal cancer in patients with familial adenomatous polyposis.
  • BACKGROUND & AIMS: Familial adenomatous polyposis (FAP) is an inherited disease affecting approximately 1:10,000 newborns, characterized by the formation of numerous adenomas in the digestive tract.
  • Surveillance and prophylactic treatment of colonic and duodenal manifestations of this disease have much influenced disease course and survival.
  • In more recent years, it has become clear that adenoma formation in FAP patients is not restricted to the colon and duodenum.
  • Accordingly, these adenomas might have malignant potential, although the actual risk is unknown.
  • METHODS: We report 3 cases of jejunal carcinoma in FAP patients and review data on incidence, prognosis, and risk factors of jejunoileal adenoma and carcinoma development in FAP.
  • RESULTS: Three patients with FAP aged 71, 57, and 59 years developed advanced duodenal adenomatosis and a jejunal carcinoma, which was associated with poor prognosis in 2 patients.
  • CONCLUSIONS: Jejunal adenomas in FAP patients are reported occasionally and can progress into adenocarcinoma with a poor prognosis.
  • In the future a subset of FAP patients benefitting from jejunal surveillance should be identified.
  • [MeSH-major] Adenocarcinoma / diagnosis. Adenoma / diagnosis. Adenomatous Polyposis Coli / complications. Jejunal Neoplasms / diagnosis

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  • Genetic Alliance. consumer health - Familial Polyposis.
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  • [Copyright] Copyright 2010 AGA Institute. Published by Elsevier Inc. All rights reserved.
  • [CommentIn] Clin Gastroenterol Hepatol. 2010 Oct;8(10):904 [20621624.001]
  • (PMID = 20399906.001).
  • [ISSN] 1542-7714
  • [Journal-full-title] Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
  • [ISO-abbreviation] Clin. Gastroenterol. Hepatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
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10. Douma KF, Bleiker EM, Aaronson NK, Cats A, Gerritsma MA, Gundy CM, Vasen HF: Long-term compliance with endoscopic surveillance for familial adenomatous polyposis. Colorectal Dis; 2010 Dec;12(12):1198-207
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Long-term compliance with endoscopic surveillance for familial adenomatous polyposis.
  • AIM: The study assessed compliance of patients with familial adenomatous polyposis (FAP) with endoscopic surveillance.
  • METHOD: In this nationwide, cross-sectional study, individuals from FAP families registered with the Netherlands Foundation for the Detection of Hereditary Tumours were invited to complete a questionnaire on endoscopic screening experiences.
  • RESULTS:  A total of 328 individuals were eligible for the study of whom 85 were at risk for FAP, 108 had an intact rectum after a colectomy with ileorectal anastomosis (IRA), and 135 had had a pouch following a proctocolectomy with ileoanal anastomosis (IPAA).
  • Based on medical record data, 20% of the at-risk group and 26% of the IRA-group were found to be undercompliant with surveillance advice which was associated significantly with perceived self-efficacy, use of sedatives during surveillance, pain after surveillance and low perceived benefits of surveillance (P < 0.05).
  • CONCLUSION: One in five individuals at risk for FAP and one in four with a retained rectum are undercompliant with screening advice.
  • We recommend that sedatives should be patient-tailored for FAP individuals undergoing surveillance and that adequate pain medication be provided after endoscopy.
  • [MeSH-major] Adenomatous Polyposis Coli / psychology. Colorectal Neoplasms / prevention & control. Patient Compliance

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  • [Copyright] © 2010 The Authors. Colorectal Disease © 2010 The Association of Coloproctology of Great Britain and Ireland.
  • (PMID = 19604286.001).
  • [ISSN] 1463-1318
  • [Journal-full-title] Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
  • [ISO-abbreviation] Colorectal Dis
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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11. Truta B, Allen BA, Conrad PG, Weinberg V, Miller GA, Pomponio R, Lipton LR, Guerra G, Tomlinson IP, Sleisenger MH, Kim YS, Terdiman JP: A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. Fam Cancer; 2005;4(2):127-33
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.
  • OBJECTIVES: Adenomatous polyposis of the colon is often secondary to an inherited mutation in adenomatous polyposis coli (APC) gene, however, approximately one third of patients have no family history of the disease.
  • We studied the phenotype and genotype of adenomatous polyposis in patients without a family history.
  • METHODS: A cohort of 57 unrelated adenomatous polyposis patients were evaluated.
  • Seventeen patients with no family history were compared with 40 patients who had a positive family history of the disease.
  • Germline APC and Mut Y homologue (MYH) testing was undertaken.
  • RESULTS: Patients without a family history were diagnosed with polyposis at an older age (41 years vs. 32 years) and presenting more frequently with symptoms (76 vs 20, P < 0.05).
  • The number of colonic polyps and frequency of extracolonic manifestation associated with adenomatous polyposis did not differ between the two groups.
  • APC mutations were detected less frequently among patients without a family history of the disease (4 out of 17 vs 25 out of 40, P=0.007), even among those with greater than 100 colorectal adenomas (4 out of 12 versus 21 out of 29, P=0.03).
  • One homozygous MYH mutation carrier (G382D) was detected among the six patients without a family history and without a germline APC mutation who were tested.
  • CONCLUSIONS: Adenomatous polyposis patients without a family history are usually diagnosed with symptoms, and at a later age.
  • However, germline APC mutations are detected far less frequently in patients without a family history.
  • A small percentage of these cases may be secondary to biallelic germline MYH mutations.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli / pathology. Genes, APC. Genetic Predisposition to Disease

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  • (PMID = 15951963.001).
  • [ISSN] 1389-9600
  • [Journal-full-title] Familial cancer
  • [ISO-abbreviation] Fam. Cancer
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
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12. Cheah PY, Wong YH, Loi C, Koh PK, Eu KW: Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli. Hum Genet; 2009 Apr;125(3):352
Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Genes, APC. INDEL Mutation

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  • (PMID = 19320041.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Databank-accession-numbers] GENBANK/ HX080001
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Codon; 0 / Codon, Nonsense
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13. Dray X, Vahedi K, Valleur P, Marteau P: Is there any need for video capsule endoscopy evaluation in postduodenal small-bowel polyps detection in familial adenomatous polyposis? Gastrointest Endosc; 2007 Sep;66(3):634; author reply 634-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Is there any need for video capsule endoscopy evaluation in postduodenal small-bowel polyps detection in familial adenomatous polyposis?
  • [MeSH-major] Adenomatous Polyposis Coli / diagnosis. Capsule Endoscopy. Intestinal Neoplasms / diagnosis. Intestine, Small
  • [MeSH-minor] Duodenal Neoplasms / diagnosis. Duodenoscopy. Humans. Ileal Neoplasms / diagnosis. Sensitivity and Specificity


14. Lopez-Kostner F, Alvarez K, de la Fuente M, Wielandt AM, Orellana P, Hurtado C: Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli. Hum Genet; 2010 Apr;127(4):480
Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Genes, APC

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  • (PMID = 21488256.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Codon
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15. Tuohy T, Burt RW: Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli. Hum Genet; 2010 Apr;127(4):477
Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Genes, APC

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  • (PMID = 21488240.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
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16. Mavrogiannis LA, Chu CE, Charlton RS: Novel human pathological mutations. Gene symbol: APC. Disease: Adenomatous polyposis coli. Hum Genet; 2009 Aug;126(2):333-4
Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Novel human pathological mutations. Gene symbol: APC. Disease: Adenomatous polyposis coli.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli Protein / genetics. Nucleotides / genetics. Point Mutation

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  • (PMID = 19694001.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Databank-accession-numbers] GENBANK/ HS080016; RefSeq/ NM/ 000038
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / Codon; 0 / Nucleotides
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17. Attard TM, Young RJ, Stoner JA, Lynch HT: Population differences in familial adenomatous polyposis may be an expression of geographic differences in APC mutation pattern. Cancer Genet Cytogenet; 2007 Jan 15;172(2):180-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Population differences in familial adenomatous polyposis may be an expression of geographic differences in APC mutation pattern.
  • [MeSH-major] Adenomatous Polyposis Coli / epidemiology. Adenomatous Polyposis Coli / genetics. Genes, APC. Genetics, Population. Mutation

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  • Genetic Alliance. consumer health - Familial Polyposis.
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  • (PMID = 17213033.001).
  • [ISSN] 0165-4608
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Comparative Study; Letter; Review
  • [Publication-country] United States
  • [Number-of-references] 20
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18. Lopez-Kostner F, Wielandt AM, Alvarez K, de la Fuente M, Orellana P, Hurtado C: Novel human pathological mutations. Gene symbol: APC. Disease: Adenomatous polyposis coli. Hum Genet; 2010 Apr;127(4):481
Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Novel human pathological mutations. Gene symbol: APC. Disease: Adenomatous polyposis coli.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Genes, APC

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  • (PMID = 21488257.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Codon
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19. Roos A, Groen EJ, van Beek AP: Cushing's syndrome due to unilateral multiple adrenal adenomas as an extraintestinal manifestation of familial adenomatous polyposis. Int J Colorectal Dis; 2009 Feb;24(2):239
MedlinePlus Health Information. consumer health - Cushing's Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cushing's syndrome due to unilateral multiple adrenal adenomas as an extraintestinal manifestation of familial adenomatous polyposis.
  • [MeSH-major] Adenomatous Polyposis Coli / complications. Adrenocortical Adenoma / complications. Cushing Syndrome / complications


20. Sato Y, Takayama T, Waga E, Sagawa T, Okamoto T, Miyanishi K, Sato T, Takimoto R, Sato Y, Sato Y, Oku T, Araki H, Takada K, Takanashi K, Kato J, Niitsu Y: [A family of attenuated familial adenomatous polyposis (AFAP)]. Nihon Shokakibyo Gakkai Zasshi; 2005 Apr;102(4):453-8
Genetic Alliance. consumer health - Attenuated Familial Adenomatous Polyposis (AFAP).

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [A family of attenuated familial adenomatous polyposis (AFAP)].
  • [MeSH-major] Adenomatous Polyposis Coli / genetics
  • [MeSH-minor] Aged. Female. Genes, APC. Humans. Male. Middle Aged

  • Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).
  • Genetic Alliance. consumer health - Familial Polyposis.
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  • (PMID = 16004351.001).
  • [ISSN] 0446-6586
  • [Journal-full-title] Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology
  • [ISO-abbreviation] Nihon Shokakibyo Gakkai Zasshi
  • [Language] jpn
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
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21. Shenoy S, Cassim R: Ileostomy adenocarcinoma associated with familial adenomatous polyposis (FAP): new problem in old disease. Int J Colorectal Dis; 2009 Dec;24(12):1475-6
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ileostomy adenocarcinoma associated with familial adenomatous polyposis (FAP): new problem in old disease.
  • [MeSH-major] Adenocarcinoma / etiology. Adenomatous Polyposis Coli / complications. Ileostomy / adverse effects

  • Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).
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  • (PMID = 19488768.001).
  • [ISSN] 1432-1262
  • [Journal-full-title] International journal of colorectal disease
  • [ISO-abbreviation] Int J Colorectal Dis
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Germany
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22. Hewavisenthi SJ, Deen KI: Synchronous colorectal adenocarcinoma arising in a patient with serrated adenomatous polyposis. Ceylon Med J; 2005 Jun;50(2):91-2
MedlinePlus Health Information. consumer health - Colorectal Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Synchronous colorectal adenocarcinoma arising in a patient with serrated adenomatous polyposis.
  • [MeSH-major] Adenocarcinoma / pathology. Adenomatous Polyposis Coli / pathology. Colorectal Neoplasms / pathology

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  • (PMID = 16114779.001).
  • [ISSN] 0009-0875
  • [Journal-full-title] The Ceylon medical journal
  • [ISO-abbreviation] Ceylon Med J
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Sri Lanka
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23. Lopez-Kostner F, Alvarez K, de la Fuente M, Wielandt AM, Orellana P, Hurtado C: Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli. Hum Genet; 2010 Apr;127(4):481
Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Genes, APC

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  • (PMID = 21488302.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Codon
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24. Mavrogiannis LA, Chu CE, Charlton RS: Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis. Hum Genet; 2009 Apr;125(3):333
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Codon, Nonsense. Genes, APC

  • Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).
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  • (PMID = 19263084.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Databank-accession-numbers] GENBANK/ HM080060
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Codon, Nonsense
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25. Bandipalliam P: Desmoid tumors and familial adenomatous polyposis: a tale of two syndromes. J Clin Gastroenterol; 2007 Mar;41(3):231-6
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Desmoid tumors and familial adenomatous polyposis: a tale of two syndromes.
  • [MeSH-major] Adenomatous Polyposis Coli / history. Fibromatosis, Aggressive / history
  • [MeSH-minor] Genes, APC. History, 18th Century. History, 19th Century. History, 20th Century. Humans. Mutation

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  • (PMID = 17426459.001).
  • [ISSN] 0192-0790
  • [Journal-full-title] Journal of clinical gastroenterology
  • [ISO-abbreviation] J. Clin. Gastroenterol.
  • [Language] eng
  • [Publication-type] Editorial; Historical Article
  • [Publication-country] United States
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26. Cymerys E, Pecold K, Paszkowski J, Banasiewicz T, Krokowicz P: [Retinal changes in patients with familial adenomatous polyposis]. Klin Oczna; 2006;108(1-3):70-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Retinal changes in patients with familial adenomatous polyposis].
  • [Transliterated title] Zmiany barwnikowe siatkówki u osób z polipowatościq rodzinna gruczolakowata.
  • PURPOSE: The aim of study was to evaluate retinal changes in patients diagnosed with familial adenomatous polyposis (FAP) and in patients with family history of FAP.
  • MATERIAL AND METHODS: The study was conducted on 51 patients diagnosed with FAP and 35 subjects with family history of FAP.
  • RESULTS: In 44 patients diagnosed with FAP (86.2%), typical pigmentation of fundus lesions were observed, in 1 patient atypical fundus changes were evident.
  • However, in the group of patients with family history of FAP, the presence of typical fundus lesions was observed in 9 patients (25.7%).
  • CONCLUSIONS: The occurrence of retinal changes typical for FAP, especially in patients with family history of the disease, should imply the higher risk of FAP.
  • [MeSH-major] Adenomatous Polyposis Coli / complications. Adenomatous Polyposis Coli / genetics. Pigment Epithelium of Eye / pathology. Retinal Diseases / diagnosis. Retinal Diseases / genetics


27. Augustyn AM, Wallerstein R: The role of pediatricians in families with a history of familial adenomatous polyposis. Clin Pediatr (Phila); 2009 Jul;48(6):623-6
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The role of pediatricians in families with a history of familial adenomatous polyposis.
  • Colon cancer is not an entity that pediatricians routinely confront; however, a family history of colon cancer can have pediatric implications when it is part of familial adenomatous polyposis syndrome.
  • Colonic (multiple intestinal polyps) and extracolonic manifestations (such as hepatoblastoma or brain tumors) can be the presenting features in children.
  • The authors present 2 patients from different families with familial adenomatous polyposis who presented with the extracolonic manifestation of this syndrome and a family history of colon cancer.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Cerebellar Neoplasms / genetics. Medulloblastoma / genetics. Patient Education as Topic. Physician's Role

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  • (PMID = 19336753.001).
  • [ISSN] 0009-9228
  • [Journal-full-title] Clinical pediatrics
  • [ISO-abbreviation] Clin Pediatr (Phila)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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28. Chen KY, Xiang GA, Wang HN, Gao P, Xiao FL: [Total colectomy and proctocolectomy under laparoscopic for familial adenomatous polyposis]. Zhonghua Yi Xue Za Zhi; 2007 Apr 3;87(13):913-5
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Total colectomy and proctocolectomy under laparoscopic for familial adenomatous polyposis].
  • OBJECTIVE: To evaluate the efficacy and characteristics of treating familial adenomatous polyposis (FAP) by total colectomy and proctocolectomy under laparoscopy.
  • METHODS: The perioperative data, including surgical outcomes, safety, and recovery of 8 FAP patients, 5 males and 3 females, aged 39 (28 approximately 65), who underwent laparoscopic total colectomy and proctocolectomy were analyzed retrospectively and follow-up of 46.8 months (32 approximately 58 months) between April 2001 and January 2003 were analyzed and compared with the data of 6 patients undergoing conventional open surgery before 2001.
  • The mean operation time of the laparoscopy group was 178 min, not significantly different from that of the conventional group (170 min, P>0.05).
  • CONCLUSION: With less trauma and pain, rapid recovery, and shorter hospital stay, laparoscopic total colectomy and proctocolectomy is feasible and safe for FAP.
  • [MeSH-major] Adenomatous Polyposis Coli / surgery. Proctocolectomy, Restorative / methods

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  • (PMID = 17650405.001).
  • [ISSN] 0376-2491
  • [Journal-full-title] Zhonghua yi xue za zhi
  • [ISO-abbreviation] Zhonghua Yi Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
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29. Moschos J, Tzilves D, Paikos D, Tagarakis G, Pilpilidis I, Antonopoulos Z, Kadis S, Katsos I, Tarpagos A: Large mesenteric gastrointestinal stromal tumor in a patient with familial adenomatous polyposis syndrome. Wien Klin Wochenschr; 2006 Jun;118(11-12):355-7
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Large mesenteric gastrointestinal stromal tumor in a patient with familial adenomatous polyposis syndrome.
  • We report a case of a 30-year-old man who presented with severe debilitation, anemia and diarrhea over two months.
  • Colonoscopy revealed many (>100) polyps (familial adenomatous polyposis syndrome).
  • Abdominal CT scan showed a large mass at the left upper abdomen in conjunction with the splenic flexure.
  • We describe for the first time in medical literature the coexistence of familial adenomatous polyposis syndrome and GIST in a 30-year-old man.
  • [MeSH-major] Adenomatous Polyposis Coli / complications. Adenomatous Polyposis Coli / diagnosis. Gastrointestinal Stromal Tumors / complications. Gastrointestinal Stromal Tumors / diagnosis. Mesentery / pathology
  • [MeSH-minor] Adult. Humans. Male. Rare Diseases / diagnosis. Syndrome

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  • (PMID = 16855925.001).
  • [ISSN] 0043-5325
  • [Journal-full-title] Wiener klinische Wochenschrift
  • [ISO-abbreviation] Wien. Klin. Wochenschr.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Austria
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30. Quah HM, Samad A, Maw A: Ileostomy carcinomas a review: the latent risk after colectomy for ulcerative colitis and familial adenomatous polyposis. Colorectal Dis; 2005 Nov;7(6):538-44
MedlinePlus Health Information. consumer health - Ulcerative Colitis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ileostomy carcinomas a review: the latent risk after colectomy for ulcerative colitis and familial adenomatous polyposis.
  • BACKGROUND: Ileostomy carcinoma after colectomy for ulcerative colitis and familial adenomatous polyposis is rare.
  • METHODS: Forty-three case reports from the literature and a case of ours are reviewed.
  • Chronic physical or chemical irritation of the stoma may predispose the ileal mucosa to colonic metaplasia with subsequent adenoma formation, dysplasia and invasive malignant change.
  • This is particularly so where ileostomies are fashioned for familial adenomatous polyposis and ulcerative colitis.
  • [MeSH-major] Adenocarcinoma / etiology. Adenomatous Polyposis Coli / surgery. Colitis, Ulcerative / surgery. Ileal Neoplasms / etiology. Ileostomy / adverse effects
  • [MeSH-minor] Colonic Pouches. Humans. Ileum / pathology. Intestinal Mucosa / pathology. Prognosis


31. Miroglio A, Jammes H, Tost J, Ponger L, Gut IG, El Abdalaoui H, Coste J, Chaussade S, Arimondo PB, Lamarque D, Dandolo L: Specific hypomethylated CpGs at the IGF2 locus act as an epigenetic biomarker for familial adenomatous polyposis colorectal cancer. Epigenomics; 2010 Jun;2(3):365-75
MedlinePlus Health Information. consumer health - Colorectal Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Specific hypomethylated CpGs at the IGF2 locus act as an epigenetic biomarker for familial adenomatous polyposis colorectal cancer.
  • AIMS: The identification of specific biomarkers for colorectal cancer is of primary importance for early diagnosis.
  • The aim of this study was to evaluate if methylation changes at the IGF2/H19 locus could be predictive for individuals at high risk for developing sporadic or hereditary colorectal cancer.
  • MATERIALS & METHODS: Quantitative methylation analysis using pyrosequencing was performed on three differentially methylated regions (DMRs): IGF2 DMR0 and DMR2 and the H19 DMR in DNA samples from sporadic colorectal cancer (n = 26), familial adenomatous polyposis (n = 35) and hereditary nonpolyposis colorectal cancer (n = 19) patients.
  • In lymphocyte DNA, a striking hypomethylation of nine contiguous correlated CpGs was found in the IGF2 DMR2 but only in familial adenomatous polyposis patients.
  • CONCLUSION: Methylation alterations at the IGF2 locus are more extensive than previously reported and DMR2 hypomethylation in lymphocyte DNA might be a specific epigenetic biomarker for familial adenomatous polyposis patients.
  • [MeSH-major] Adenomatous Polyposis Coli / metabolism. Biomarkers / metabolism. Colorectal Neoplasms / metabolism. CpG Islands / genetics. DNA Methylation / genetics. Insulin-Like Growth Factor II / genetics


32. Parés D, Pera M, González S, Pascual Cruz M, Blanco I: [Familial adenomatous polyposis]. Gastroenterol Hepatol; 2006 Dec;29(10):625-35
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Familial adenomatous polyposis].
  • [Transliterated title] Poliposis adenomatosa familiar.
  • Familial adenomatous polyposis is a rare genetic disease characterized by the development of more than a hundred adenomatous polyps in the colorectal area, as well as by extracolonic manifestations.
  • Without treatment, this inherited disease, usually transmitted by autosomal dominant inheritance, predisposes to colorectal cancer.
  • Treatment must be preceded by counseling about the nature of the syndrome and by recommendations for the optimal management and surveillance of the disease.
  • However, the type of surgical technique used depends mainly on the severity of the polyposis phenotype, the age of the patient at diagnosis, and a series of special clinical circumstances.
  • This article reviews the main studies published on familial adenomatous polyposis in order to provide an update on the most appropriate management of these patients.
  • [MeSH-major] Adenomatous Polyposis Coli

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  • (PMID = 17198641.001).
  • [ISSN] 0210-5705
  • [Journal-full-title] Gastroenterología y hepatología
  • [ISO-abbreviation] Gastroenterol Hepatol
  • [Language] spa
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Spain
  • [Number-of-references] 76
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33. Bianchi LK, Burke CA, Bennett AE, Lopez R, Hasson H, Church JM: Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol; 2008 Feb;6(2):180-5
MedlinePlus Health Information. consumer health - Stomach Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fundic gland polyp dysplasia is common in familial adenomatous polyposis.
  • BACKGROUND & AIMS: Fundic gland polyps (FGPs) are common in familial adenomatous polyposis (FAP) but have been considered nonneoplastic.
  • Gastric carcinoma arises from FGPs in FAP presumably from a dysplasia-carcinoma pathway.
  • Our study examined the prevalence of FGPs and FGP dysplasia in FAP and identified endoscopic or demographic features associated with FGPs and dysplasia.
  • METHODS: Demographic and endoscopic information were obtained prospectively from 75 consecutive subjects undergoing upper-endoscopic surveillance for FAP.
  • In the multivariable analysis larger FGP size (odds ratio [OR], 4.0; 95% confidence interval [CI], 1.1-14.4), higher stage of duodenal polyposis (OR, 2.3; 95% CI, 1.2-4.5), and antral gastritis (OR, 11.2; 95% CI, 1.2-103.9) were associated with FGP dysplasia.
  • Exposure to acid-suppressive medications was associated with a marked decrease in dysplastic FGPs (OR, 0.14; 95% CI, 0.03-0.64).
  • CONCLUSIONS: The majority of FAP patients have FGPs and nearly half will have dysplastic FGPs.
  • FGP dysplasia is associated with larger polyp size, increased severity of duodenal polyposis, and antral gastritis.
  • [MeSH-major] Adenomatous Polyposis Coli / complications. Adenomatous Polyposis Coli / pathology. Gastric Fundus / pathology. Precancerous Conditions / epidemiology. Precancerous Conditions / pathology. Pyloric Antrum / pathology. Stomach Neoplasms

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  • (PMID = 18237868.001).
  • [ISSN] 1542-7714
  • [Journal-full-title] Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
  • [ISO-abbreviation] Clin. Gastroenterol. Hepatol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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34. Will OC, Hansmann A, Phillips RK, Palazzo FF, Meeran K, Marshall M, Clark SK: Adrenal incidentaloma in familial adenomatous polyposis: a long-term follow-up study and schema for management. Dis Colon Rectum; 2009 Sep;52(9):1637-44
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  • [Title] Adrenal incidentaloma in familial adenomatous polyposis: a long-term follow-up study and schema for management.
  • PURPOSE: Adrenal incidentaloma is often diagnosed in patients with familial adenomatous polyposis, because they frequently undergo abdominal imaging and have a raised incidence of adrenal incidentaloma.
  • This study investigates the natural history of adrenal incidentaloma in familial adenomatous polyposis, and suggests a schema for management.
  • METHODS: An original cohort of 14 familial adenomatous polyposis patients with adrenal incidentaloma, identified prospectively 12 years ago, was followed up clinically and radiologically.
  • For both cohorts, characteristics of patients (genotype, age at diagnosis, concomitant diagnoses) and incidentaloma (size, laterality, rate of growth, outcome) are described.
  • RESULTS: Overall, 3 of 30 patients underwent adrenalectomy; one patient had pheochromocytoma and another had an adenoma of borderline malignancy.
  • A further three lesions were radiologically suspicious for malignancy at the time of diagnosis; one was in a patient who was unfit for surgery but died of nonadrenal causes after nine years.
  • None of the lesions radiologically benign at diagnosis showed an aggressive course, but one patient required referral for surgery after 12 years because of a slow increase in size of the lesion.
  • CONCLUSIONS: Familial adenomatous polyposis-associated adrenal incidentaloma may warrant long-term follow-up.
  • Although the natural history is similar to lesions occurring sporadically, these patients have concomitant familial adenomatous polyposis-associated manifestations under radiologic surveillance.
  • In this rare condition, development of a robust protocol will require evidence from worldwide patient cohorts.
  • [MeSH-major] Adenoma / diagnosis. Adenoma / therapy. Adenomatous Polyposis Coli / pathology. Adrenal Gland Neoplasms / diagnosis. Adrenal Gland Neoplasms / therapy. Incidental Findings

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  • (PMID = 19690494.001).
  • [ISSN] 1530-0358
  • [Journal-full-title] Diseases of the colon and rectum
  • [ISO-abbreviation] Dis. Colon Rectum
  • [Language] eng
  • [Grant] United Kingdom / Cancer Research UK / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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35. Batsis JA, Baron TH, Arora AS: Acute pancreatitis secondary to adenomatous transformation of the ampulla of Vater in a patient with familial adenomatous polyposis. Surg Laparosc Endosc Percutan Tech; 2007 Feb;17(1):45-8
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  • [Title] Acute pancreatitis secondary to adenomatous transformation of the ampulla of Vater in a patient with familial adenomatous polyposis.
  • We present an unusual case of pancreatitis secondary to a polyp obstructing the papilla, treated endoscopically.
  • A 45-year-old woman with familial adenomatous polyposis syndrome and prior total colectomy presented with acute pancreatitis.
  • Sphincterotomy and endoscopic snare resection of the polyp were performed without complications.
  • Local, noninvasive procedures are a promising diagnostic and therapeutic modality which has significantly less morbidity and mortality than conventional surgical techniques, and may be a reasonable alternative in the management of such patients.
  • [MeSH-major] Adenoma / pathology. Adenomatous Polyposis Coli / complications. Ampulla of Vater / pathology. Common Bile Duct Diseases / complications. Pancreatitis / etiology


36. Brosens LA, Keller JJ, Pohjola L, Haglund C, Morsink FH, Iacobuzio-Donahue C, Goggins M, Giardiello FM, Ristimäki A, Offerhaus GJ: Increased expression of cytoplasmic HuR in familial adenomatous polyposis. Cancer Biol Ther; 2008 Mar;7(3):424-7
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  • [Title] Increased expression of cytoplasmic HuR in familial adenomatous polyposis.
  • HuR overexpression is associated with increased tumor growth.
  • To investigate expression of HuR in the colorectal adenoma-carcinoma sequence, we examined expression of HuR in colorectal mucosa of patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer with correlation to COX-2 expression.
  • RESULTS: Cytoplasmic HuR staining was found in the epithelium of 10% of normal mucosa, 14.3% of adenomas and 88.9% of adenocarcinomas from FAP patients (p < 0.01) and in 68.8% of sporadic colorectal carcinomas.
  • High epithelial COX-2 immunostaining was observed in 10% of normal, 8% of adenomas and all adenocarcinomas from FAP patients (p < 0.01) and in 69.5% of sporadic colorectal carcinomas.
  • Positive cytoplasmic HuR immunostaining correlated with high COX-2 immunoreactivity in colon mucosa of FAP patients (p < 0.01) and in sporadic colorectal carcinomas. (p = 0.016) MATERIALS AND METHODS: HuR and COX-2 protein expression were studied by immunohistochemistry of normal colon mucosa (N=20), adenomas (N=112), carcinomas (N=9) from patients with FAP, and 141 sporadic colorectal adenocarcinomas (Dukes B and C).
  • CONCLUSIONS: HuR is increasingly expressed in the cytoplasmic epithelial compartment in consecutive stages of the adenoma-carcinoma sequence in FAP.
  • Also, COX-2 levels correlate with cytoplasmic expression of HuR in colonic epithelium of FAP patients and in sporadic colorectal cancer specimens.
  • The role of cytoplasmic expression of HuR as a biomarker for progression of adenomas in FAP needs further study.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Antigens, Surface / genetics. RNA-Binding Proteins / genetics
  • [MeSH-minor] Colonic Neoplasms / enzymology. Colonic Neoplasms / genetics. Cyclooxygenase 2 / genetics. Cytoplasm / physiology. ELAV Proteins. ELAV-Like Protein 1. Epithelial Cells / enzymology. Epithelial Cells / pathology. Gene Expression Regulation, Enzymologic. Gene Expression Regulation, Neoplastic. Humans. Intestinal Mucosa / pathology. Phosphoproteins / metabolism

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  • [CommentIn] Cancer Biol Ther. 2008 Mar;7(3):428-9 [18285701.001]
  • (PMID = 18094611.001).
  • [ISSN] 1555-8576
  • [Journal-full-title] Cancer biology & therapy
  • [ISO-abbreviation] Cancer Biol. Ther.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA 53801; United States / NCI NIH HHS / CA / CA51085; United States / NCI NIH HHS / CA / CA63721; United States / NCI NIH HHS / CA / P50 CA 93-16
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antigens, Surface; 0 / ELAV Proteins; 0 / ELAV-Like Protein 1; 0 / ELAVL1 protein, human; 0 / Phosphoproteins; 0 / RNA-Binding Proteins; EC 1.14.99.1 / Cyclooxygenase 2; EC 1.14.99.1 / PTGS2 protein, human
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37. Garzón-Benavides M, Pizarro-Moreno A, García-Lozano R, Herrero-Garrido MI, Hervás-Molina AJ, Márquez-Galán JL, Cordero-Fernández C: Andalusian Registry for familial adenomatous polyposis. Analysis of patients included. Rev Esp Enferm Dig; 2010 Nov;102(11):653-7
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  • [Title] Andalusian Registry for familial adenomatous polyposis. Analysis of patients included.
  • OBJECTIVE: To evaluate the phenotype and genotype characteristic of patients included in the Andalusian Registry for familial adenomatous polyposis, the genotype/phenotype correlation and the impact of Registry in the frequency of colorectal cancer of registered.
  • MATERIAL AND METHODS: A descriptive study of 77 patients with FAP belonging to 33 families, included in a centralized database visited by the physicians of the hospitals taking part in the present study, on prior signing of confidentiality letters.
  • Ten probands showed colorectal cancer (CRC) at the time of diagnosis (32.2%).
  • Only two affected relatives showed CRC at diagnosis (4.3%), a statistically significant difference (p < 0.05).
  • CONCLUSIONS: The registry has facilitated the genetic diagnosis for all affected families disregard their province of origin.
  • It has also improved the screening of affected relatives and has made it possible to take preventive measures immediately, therefore diminishing the incidence of CRC at diagnosis in registered affected relatives.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics

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  • (PMID = 21142386.001).
  • [ISSN] 1130-0108
  • [Journal-full-title] Revista española de enfermedades digestivas : organo oficial de la Sociedad Española de Patología Digestiva
  • [ISO-abbreviation] Rev Esp Enferm Dig
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Spain
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38. Ito M, Suzuki H, Sagawa Y, Homma S: The identification of a novel Paneth cell-associated antigen in a familial adenomatous polyposis mouse model. Biochem Biophys Res Commun; 2010 Oct 1;400(4):548-53

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  • [Title] The identification of a novel Paneth cell-associated antigen in a familial adenomatous polyposis mouse model.
  • Wnt signaling is important for the differentiation of the Paneth cell lineage in the small intestine.
  • However, abnormal Wnt signaling predisposes to intestinal tumorigenesis in the familial adenomatous polyposis (FAP) mouse model.
  • Vaccination with dendritic cells fused with tumor cells from FAP mice, in which Wnt signaling is constitutively activated, induced humoral immunity and suppressed intestinal tumor development.
  • We identified the novel antigen Apa1 (Adenomatous polyposis antigen 1) recognized by antibodies in vaccinated mouse serum.
  • Phospholipase A2 (Pla2g2a), known to act as an anti-bacterial agent and a major suppressor of intestinal tumors, was also expressed in the Paneth cells.
  • These results suggest that Apa1 might be involved in anti-microbial defense and could influence tumor development in FAP mice via modulation of commensal microbiota.
  • [MeSH-major] Adenomatous Polyposis Coli / metabolism. Antigens, Neoplasm / metabolism. Antigens, Surface / immunology. Intestine, Small / metabolism. Paneth Cells / metabolism
  • [MeSH-minor] Amino Acid Sequence. Animals. Disease Models, Animal. Epitope Mapping. Group II Phospholipases A2 / metabolism. Mice. Molecular Sequence Data

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  • [Copyright] Copyright © 2010 Elsevier Inc. All rights reserved.
  • (PMID = 20804739.001).
  • [ISSN] 1090-2104
  • [Journal-full-title] Biochemical and biophysical research communications
  • [ISO-abbreviation] Biochem. Biophys. Res. Commun.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antigens, Neoplasm; 0 / Antigens, Surface; EC 3.1.1.4 / Group II Phospholipases A2; EC 3.1.1.4 / Pla2g2a protein, mouse
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39. Yanaru-Fujisawa R, Matsumoto T, Kukita Y, Nakamura S, Yao T, Hayashi K, Iida M: Impact of Phospholipase A2 group IIa gene polymorphism on phenotypic features of patients with familial adenomatous polyposis. Dis Colon Rectum; 2007 Feb;50(2):223-31
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Impact of Phospholipase A2 group IIa gene polymorphism on phenotypic features of patients with familial adenomatous polyposis.
  • PURPOSE: Phospholipase A2 Group IIa has been suggested to be a possible disease modifier gene in familial adenomatous polyposis.
  • This investigation was designed to elucidate possible association between phospholipase A2 Group IIa polymorphism and phenotypes of patients with familial adenomatous polyposis.
  • METHODS: Phospholipase A2 Group IIa was examined by polymerase chain reaction-based single strand conformation polymorphism and direct sequencing in 55 patients from 45 families with familial adenomatous polyposis.
  • The patients were examined by gastroduodenoscopy plus biopsy with respect to fundic gland polyposis and gastroduodenal adenomas.
  • Contributions of genetic alteration and Helicobacter pylori infection to intestinal and extraintestinal lesions were investigated.
  • The prevalence of fundic gland polyposis was higher in patients positive for single nucleotide polymorphism of phospholipase A2 Group IIa than those negative for single nucleotide polymorphism (61 vs. 33 percent; P < 0.05).
  • The prevalence of the other phenotypes was not different significantly.
  • Logistic regression analysis revealed a possibility toward single nucleotide polymorphism of phospholipase A2 Group IIa as an independent risk factor for fundic gland polyposis (95 percent confidence interval, 00.9-14.3; P = 0.06).
  • CONCLUSIONS: Phospholipase A2 Group IIa may be a modifier gene for fundic gland polyposis in patients with familial adenomatous polyposis.
  • [MeSH-major] Adenomatous Polyposis Coli / enzymology. Genes, APC. Polymorphism, Single-Stranded Conformational


40. Censi F, Falbo V, Floridia G, Salvatore M, Tosto F, De Rosa M, Resta N, Izzo P, Guanti G, Taruscio D: The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience. Genet Test Mol Biomarkers; 2010 Apr;14(2):175-81
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience.
  • Familial adenomatous polyposis is a rare autosomal dominant inherited disease (incidence, 1/8000).
  • More than 90% of families affected by familial adenomatous polyposis have a mutation in the tumor suppressor gene adenomatous polyposis coli (APC).
  • Mutations in this gene are characterized by 100% penetrance, although there is a variation in phenotypic expression of the disease.
  • According to a 2004 survey of the Italian Human Genetic Society, about 264 APC gene molecular genetic tests were performed by Italian laboratories per year.
  • In the frame of the IEQA, about 50% of public laboratories performing APC gene tests have been monitored.
  • Methods used by laboratories to detect mutation were direct sequencing, single-strand conformation polymorphism, protein truncation test, and denaturing high-performance liquid chromatography.
  • Written reports were not homogeneous among laboratories, although a new form of written report was proposed to laboratories in 2004.
  • It will be interesting to monitor the effects of the reporting model and the output of this educational action in the future.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Genes, APC. Genetic Testing / standards. Mutation

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  • (PMID = 20136519.001).
  • [ISSN] 1945-0257
  • [Journal-full-title] Genetic testing and molecular biomarkers
  • [ISO-abbreviation] Genet Test Mol Biomarkers
  • [Language] eng
  • [Publication-type] Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't; Validation Studies
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Codon, Nonsense
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41. Zhou JN, Chen SQ, Zhang XM, Zhou X, Zhu M, Feng B, Li JT, Ma GJ, Zhang YY: [A novel APC gene germline mutation in a familial adenomatous polyposis pedigree]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug;23(4):388-91
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  • [Title] [A novel APC gene germline mutation in a familial adenomatous polyposis pedigree].
  • OBJECTIVE: To detect the adenomatous polyposis coli (APC) gene germline mutation in the proband and her family members with familial adenomatous polyposis (FAP).
  • METHODS: The diagnosis of a patient with FAP was validated by colonoscopy, pathology and the family history.
  • The systematic screening with multiplex ligation-dependent probe amplification (MLPA), denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing were carried out to detect APC gene germline mutations.
  • RESULTS: A novel mutation c.1999 C >T (Q667X) of APC, which leads to premature termination of the protein, was identified in this family.
  • This mutation manifested an aggressive form of FAP with early onset of colorectal adenocarcinoma and colonic adenoma.
  • CONCLUSION: The mutation of APC Q667X is the cause of clinical phenotype of this family with FAP, and the prophylactic colectomy for the affected family members should be considered.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli Protein / genetics. Germ-Line Mutation
  • [MeSH-minor] Adolescent. Adult. Base Sequence. Child. Chromatography, High Pressure Liquid. DNA Mutational Analysis. Female. Humans. Male. Middle Aged. Pedigree. Phenotype. Polymerase Chain Reaction

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  • (PMID = 16883523.001).
  • [ISSN] 1003-9406
  • [Journal-full-title] Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
  • [ISO-abbreviation] Zhonghua Yi Xue Yi Chuan Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein
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42. Durno C, Monga N, Bapat B, Berk T, Cohen Z, Gallinger S: Does early colectomy increase desmoid risk in familial adenomatous polyposis? Clin Gastroenterol Hepatol; 2007 Oct;5(10):1190-4
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  • [Title] Does early colectomy increase desmoid risk in familial adenomatous polyposis?
  • BACKGROUND & AIMS: Desmoid tumors are non-metastasizing fibromatoses that occur in 10%-20% of subjects with familial adenomatous polyposis (FAP).
  • Intra-abdominal desmoid tumors are a major cause of mortality in FAP.
  • FAP-associated desmoid tumors are linked to trauma, particularly abdominal surgery, family history of desmoids, hormonal factors, and the location of the APC mutation.
  • METHODS: An analysis was made of the association between development of desmoid and age at colectomy, family history of desmoids, gender, and APC mutation in FAP patients in the Registry (1980-2005) at Mount Sinai Hospital, Toronto, Ontario, Canada.
  • RESULTS: FAP patients (n = 930) from 365 kindreds were identified.
  • Early colectomy did not increase risk of developing a desmoid in male patients (P = .42).
  • CONCLUSIONS: Female patients with FAP are more likely to develop desmoids than male patients.
  • Patients with APC mutations beyond codon 1399 are more likely to develop desmoids.
  • These results suggest that delayed colectomy might be considered in young female patients with FAP to decrease the chances of developing desmoids.
  • [MeSH-major] Abdominal Neoplasms / etiology. Adenomatous Polyposis Coli / surgery. Colectomy / adverse effects. Fibromatosis, Aggressive / etiology
  • [MeSH-minor] Adolescent. Adult. Age Factors. Aged. Confidence Intervals. Endoscopy, Gastrointestinal. Female. Follow-Up Studies. Genes, APC / physiology. Humans. Male. Middle Aged. Mutation. Ontario / epidemiology. Prevalence. Prognosis. Retrospective Studies. Risk Factors. Sex Factors. Survival Rate. Time Factors

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  • (PMID = 17916546.001).
  • [ISSN] 1542-7714
  • [Journal-full-title] Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
  • [ISO-abbreviation] Clin. Gastroenterol. Hepatol.
  • [Language] eng
  • [Publication-type] Journal Article; Multicenter Study
  • [Publication-country] United States
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43. de Campos FG, Perez RO, Imperiale AR, Seid VE, Nahas SC, Cecconello I: Evaluating causes of death in familial adenomatous polyposis. J Gastrointest Surg; 2010 Dec;14(12):1943-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Evaluating causes of death in familial adenomatous polyposis.
  • BACKGROUND: Familial adenomatous polyposis is a genetic syndrome associated with an increased risk of colorectal cancer (CRC) and different extracolonic manifestations.
  • At diagnosis, 57 patients (58.7%) already had CRC-associated polyposis.
  • Two patients were not operated on.
  • CRC, other tumors (desmoid tumors, lymphoma, and gastric cancer), and other causes (complication of duodenal cancer surgery, complication after ileorectal anastomosis (IRA), and coronary disease) were responsible for 12 (63.1%), four (21.1%), and three (15.8%) of all deaths, respectively.
  • Desmoid disease was the second cause of death (10.5% of all causes), leading to a fatal outcome 22% of all patients who developed DT during the study period.
  • (4) our results raise the need for local improvement in familiar screening and help us to define follow-up strategies and patient-information standards.
  • [MeSH-major] Adenomatous Polyposis Coli / mortality

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  • (PMID = 20676788.001).
  • [ISSN] 1873-4626
  • [Journal-full-title] Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract
  • [ISO-abbreviation] J. Gastrointest. Surg.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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44. Gupta C, Mazzara PF: High-grade pancreatic intraepithelial neoplasia in a patient with familial adenomatous polyposis. Arch Pathol Lab Med; 2005 Nov;129(11):1398-400
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  • [Title] High-grade pancreatic intraepithelial neoplasia in a patient with familial adenomatous polyposis.
  • Familial adenomatous polyposis (FAP) is caused by mutation of the adenomatous polyposis coli (APC) gene and is characterized by multiple colorectal adenomas and tumors of other organs and sites.
  • A 58-year-old woman with FAP syndrome and previous total colectomy presented for routine follow-up examination.
  • A pancreaticoduodenectomy confirmed multiple duodenal adenomas.
  • Pancreatic precancerous lesions have only rarely been described in FAP, including 2 pancreatic duct adenomas and 2 intraductal papillary mucinous neoplasms.
  • A review of the world English literature revealed no reports of PanIN-3 in association with FAP.
  • Further studies are required to determine if patients with FAP are at increased risk for pancreatic premalignant lesions.
  • [MeSH-major] Adenomatous Polyposis Coli / pathology. Carcinoma in Situ / pathology. Pancreatic Neoplasms / pathology
  • [MeSH-minor] Colectomy. Duodenal Neoplasms / pathology. Female. Humans. Middle Aged. Neoplasms, Multiple Primary. Pancreatic Ducts / pathology. Precancerous Conditions

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  • (PMID = 16253018.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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45. Lee EJ, Park CK, Kim JW, Chang DK, Kim KM: Deletion mutation of BRAF in a serrated adenoma from a patient with familial adenomatous polyposis. APMIS; 2007 Aug;115(8):982-6
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  • [Title] Deletion mutation of BRAF in a serrated adenoma from a patient with familial adenomatous polyposis.
  • BRAF gene mutations in the colorectum have been associated with serrated adenomas and less frequently with hyperplastic polyps, villous adenomas, tubular adenomas, and carcinomas.
  • Most BRAF mutations in the colon have been reported as a V600E substitution.
  • We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delinsGlu) in a serrated adenoma; the patient has familial adenomatous polyposis with a germline mutation of the APC gene (c.3578delA, p.Gln1193ArgfsX1264).
  • This case is the first reported with a deletion mutation of BRAF found in the colon.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Gene Deletion. Proto-Oncogene Proteins B-raf / genetics
  • [MeSH-minor] Female. Genes, APC. Humans. Middle Aged. Polymerase Chain Reaction

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  • (PMID = 17696956.001).
  • [ISSN] 0903-4641
  • [Journal-full-title] APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
  • [ISO-abbreviation] APMIS
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] EC 2.7.11.1 / BRAF protein, human; EC 2.7.11.1 / Proto-Oncogene Proteins B-raf
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46. Jeannot E, Wendum D, Paye F, Mourra N, de Toma C, Fléjou JF, Zucman-Rossi J: Hepatocellular adenoma displaying a HNF1alpha inactivation in a patient with familial adenomatous polyposis coli. J Hepatol; 2006 Dec;45(6):883-6
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  • [Title] Hepatocellular adenoma displaying a HNF1alpha inactivation in a patient with familial adenomatous polyposis coli.
  • Patients with familial adenomatous polyposis coli (FAP) may rarely develop hepatocellular adenoma.
  • Here we report the case of a 37-year-old FAP woman presenting a hepatocellular adenoma after oestroprogestative oral contraception use.
  • In this steatotic adenoma, we identified an inactivating biallelic mutation of HNF1alpha.
  • In addition to the known germline APC mutation Q1062fs, we did not find an inactivation of the second APC allele nor an activation of the beta-catenin target genes GLUL and GPR49.
  • Our findings contrast with two hepatocellular adenoma cases related to FAP, for which a biallelic inactivation of the APC gene was previously described.
  • Altogether, these results suggest that benign hepatocellular carcinogenesis may be dependent on or independent of the Wnt/beta-catenin pathway in patients with FAP.
  • [MeSH-major] Adenomatous Polyposis Coli / complications. Carcinoma, Hepatocellular / genetics. Gene Silencing. Germ-Line Mutation. Hepatocyte Nuclear Factor 1-alpha / genetics. Liver Neoplasms / genetics
  • [MeSH-minor] Adult. Alleles. Diagnosis, Differential. Female. Genes, APC. Genetic Predisposition to Disease. Humans. Immunohistochemistry. Reverse Transcriptase Polymerase Chain Reaction

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  • (PMID = 17049664.001).
  • [ISSN] 0168-8278
  • [Journal-full-title] Journal of hepatology
  • [ISO-abbreviation] J. Hepatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Hepatocyte Nuclear Factor 1-alpha
  • [Other-IDs] NLM/ HALMS130312; NLM/ PMC2121664
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47. Lee SH, Ahn BK, Chang HK, Baek SU: Adenocarcinoma in ileal pouch after proctocolectomy for familial adenomatous polyposis: report of a case. J Korean Med Sci; 2009 Oct;24(5):985-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Adenocarcinoma in ileal pouch after proctocolectomy for familial adenomatous polyposis: report of a case.
  • Restorative proctocolectomy with ileal pouch-anal anastomosis is one of the surgical treatments of choice for patients with familial adenomatous polyposis.
  • Although the risk of cancer developing in an ileal pouch is not yet clear, a few cases of adenocarcinoma arising in an ileal pouch have been reported.
  • A 56-yr-old woman was diagnosed as having familial adenomatous polyposis.
  • [MeSH-major] Adenocarcinoma / diagnosis. Adenomatous Polyposis Coli / surgery. Colonic Pouches / pathology. Colorectal Neoplasms / diagnosis. Proctocolectomy, Restorative

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  • (PMID = 19795007.001).
  • [ISSN] 1598-6357
  • [Journal-full-title] Journal of Korean medical science
  • [ISO-abbreviation] J. Korean Med. Sci.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Korea (South)
  • [Other-IDs] NLM/ PMC2752792
  • [Keywords] NOTNLM ; Adenocarcinoma / Adenomatous Polyposis Coli / Ileal Pouches
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48. Ignatenko NA, Besselsen DG, Stringer DE, Blohm-Mangone KA, Cui H, Gerner EW: Combination chemoprevention of intestinal carcinogenesis in a murine model of familial adenomatous polyposis. Nutr Cancer; 2008;60 Suppl 1:30-5
Hazardous Substances Data Bank. Eflornithine .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Combination chemoprevention of intestinal carcinogenesis in a murine model of familial adenomatous polyposis.
  • Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited syndrome in humans.
  • The Apc(Min/+) mouse, which expresses a mutant homolog of the adenomatous polyposis coli gene, is a model of FAP in humans.
  • Treatment with the nonsteroidal anti-inflammatory drugs (NSAIDS) sulindac or celecoxib can suppress polyp development in FAP patients, but responses are generally transient and incomplete.
  • Combination chemoprevention with the ornithine decarboxylase inhibitor difluoromethylornithine (DFMO) and either celecoxib or sulindac was evaluated in the Apc(Min/+) mouse.
  • Combinations of DFMO and either NSAID reduced intestinal tumor number by more than 80% (P < 0.0001) compared to untreated controls.
  • In addition to the dramatic reduction in tumor number, the combination of DFMO and sulindac reduced the development of high-grade intestinal adenomas compared to sulindac alone (P = 0.003).
  • The fraction of high-grade intestinal adenomas remaining after treatment was similar for the combination of DFMO and celecoxib and celecoxib alone.
  • Only combinations of DFMO plus sulindac reduced total intestinal polyamine contents compared to untreated mice.
  • These data support the rationale for treatment of FAP patients postcolectomy with DFMO combined with either celecoxib or sulindac but indicate that sulindac may be more effective than celecoxib in reducing intestinal polyamine contents and the incidence of high-grade intestinal adenomas when combined with DFMO.
  • [MeSH-major] Adenoma / prevention & control. Adenomatous Polyposis Coli / drug therapy. Intestinal Neoplasms / prevention & control
  • [MeSH-minor] Animals. Biogenic Polyamines / analysis. Celecoxib. Chemoprevention. Eflornithine / administration & dosage. Female. Genes, APC. Intestinal Polyps / prevention & control. Male. Mice. Mice, Inbred C57BL. Pyrazoles / administration & dosage. Sulfonamides / administration & dosage. Sulindac / administration & dosage

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  • (PMID = 19003578.001).
  • [ISSN] 1532-7914
  • [Journal-full-title] Nutrition and cancer
  • [ISO-abbreviation] Nutr Cancer
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA123065; United States / NCI NIH HHS / CA / CA23074; United States / NCI NIH HHS / CA / CA72008; United States / NCI NIH HHS / CA / CA95060
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biogenic Polyamines; 0 / Pyrazoles; 0 / Sulfonamides; 184SNS8VUH / Sulindac; JCX84Q7J1L / Celecoxib; ZQN1G5V6SR / Eflornithine
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49. Will OC, Man RF, Phillips RK, Tomlinson IP, Clark SK: Familial adenomatous polyposis and the small bowel: a loco-regional review and current management strategies. Pathol Res Pract; 2008;204(7):449-58
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Familial adenomatous polyposis and the small bowel: a loco-regional review and current management strategies.
  • Small-bowel tumours are an important cause of morbidity and death in patients with familial adenomatous polyposis.
  • Some occur commonly de novo (in stomach, duodenum and ampulla), while others may occur following surgery (polyps of the ileostomy, ileoanal pouch, or small bowel above an anastomosis).
  • [MeSH-major] Adenomatous Polyposis Coli / pathology. Intestinal Neoplasms / pathology. Intestine, Small / pathology. Upper Gastrointestinal Tract / pathology

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  • (PMID = 18538945.001).
  • [ISSN] 0344-0338
  • [Journal-full-title] Pathology, research and practice
  • [ISO-abbreviation] Pathol. Res. Pract.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 92
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50. Osuagwu CC, Okafor OC, Ezeome ER, Uche CE, Ememonu C, Kesieme E: Familial adenomatous polyposis with synchronous invasive colonic carcinomas and metastatic jejunal adenocarcinoma in a Nigerian male. Rare Tumors; 2010;2(4):e66

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Familial adenomatous polyposis with synchronous invasive colonic carcinomas and metastatic jejunal adenocarcinoma in a Nigerian male.
  • Familial adenomatous polyposis is rare.
  • This patient presented with partial large bowel obstruction and the pathological analysis revealed 4 invasive adenocarcinomas, 3 in the colon and 1 in the jejunum (Dukes stage D).
  • He died eight months after surgery from disease progression.
  • The challenges of managing a hereditary cancer syndrome in a resource poor country are highlighted.

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  • (PMID = 21234258.001).
  • [ISSN] 2036-3613
  • [Journal-full-title] Rare tumors
  • [ISO-abbreviation] Rare Tumors
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Italy
  • [Other-IDs] NLM/ PMC3019601
  • [Keywords] NOTNLM ; adenocarcinoma. / colon / familial adenomatous polyposis / jejunum
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51. Telang N, Katdare M: Novel cell culture model for prevention of carcinogenic risk in familial adenomatous polyposis syndrome. Oncol Rep; 2009 Apr;21(4):1017-21
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Novel cell culture model for prevention of carcinogenic risk in familial adenomatous polyposis syndrome.
  • Clinical familial adenomatous polyposis (FAP) syndrome represents a high risk pre-invasive precursor for colon cancer, and is characterized by germ line mutation in the adenomatous polyposis coli (APC) tumor suppressor gene.
  • Cloned colon epithelial cell line from the Apc850 Min/+ mouse represented a model for FAP.
  • The Apc mutant 850Min COL-Cl1 cells exhibited decreased G0/G1:S+G2/M ratio, increased S+G2/M:subG0 ratio, and increased anchorage-independent colony formation, indicating loss of homeostatic growth control and gain of anchorage-independent growth.
  • These data identify a novel cell culture model and validate a mechanism-based approach to prioritize combinations of effective chemopreventive compounds for prevention/therapy of colon cancer.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Colonic Neoplasms / prevention & control
  • [MeSH-minor] Animals. Anticarcinogenic Agents / therapeutic use. Catechin / analogs & derivatives. Catechin / therapeutic use. Cell Line. Eflornithine / therapeutic use. Eicosapentaenoic Acid / therapeutic use. Genes, APC. Mice. Mice, Inbred C57BL. Mutation

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  • (PMID = 19288003.001).
  • [ISSN] 1021-335X
  • [Journal-full-title] Oncology reports
  • [ISO-abbreviation] Oncol. Rep.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA29502-20; United States / NCI NIH HHS / CA / CA29502-S1; United States / NCI NIH HHS / CN / CN75029-63; United States / NCI NIH HHS / CA / R01 CA122394
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] Greece
  • [Chemical-registry-number] 0 / Anticarcinogenic Agents; 8R1V1STN48 / Catechin; AAN7QOV9EA / Eicosapentaenoic Acid; BQM438CTEL / epigallocatechin gallate; ZQN1G5V6SR / Eflornithine
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52. Nieuwenhuis MH, Bülow S, Björk J, Järvinen HJ, Bülow C, Bisgaard ML, Vasen HF: Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery. Dis Colon Rectum; 2009 Jul;52(7):1259-63
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery.
  • PURPOSE: Genetic information may help preoperatively select patients with familial adenomatous polyposis for either colectomy with ileorectal anastomosis or proctocolectomy with ileal pouch-anal anastomosis.
  • Although complicated, the latter procedure has a low long-term risk of rectal cancer.
  • METHODS: Data were obtained from four national polyposis registries.
  • On the basis of previously described genotype-phenotype correlations, patients were divided into three genotype groups predicting attenuated, intermediate, and severe polyposis phenotypes.
  • RESULTS: Four hundred and seventy-five polyposis patients with a previous colectomy were included.
  • CONCLUSION: Mutation analysis may be used to predict the risk of secondary proctectomy after primary colectomy in familial adenomatous polyposis.
  • The risk of rectal cancer after primary colectomy was not significantly different between the three groups.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli / pathology. Colectomy. Genes, APC. Rectal Neoplasms / genetics

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  • (PMID = 19571702.001).
  • [ISSN] 1530-0358
  • [Journal-full-title] Diseases of the colon and rectum
  • [ISO-abbreviation] Dis. Colon Rectum
  • [Language] eng
  • [Publication-type] Journal Article; Multicenter Study
  • [Publication-country] United States
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53. Jaiswal AS, Narayan S: A novel function of adenomatous polyposis coli (APC) in regulating DNA repair. Cancer Lett; 2008 Nov 28;271(2):272-80
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  • [Title] A novel function of adenomatous polyposis coli (APC) in regulating DNA repair.
  • Prevailing literature suggests diversified cellular functions for the adenomatous polyposis coli (APC) gene.
  • Among them a recently discovered unique role of APC is in DNA repair.
  • The APC gene can modulate the base excision repair (BER) pathway through an interaction with DNA polymerase beta (Pol-beta) and flap endonuclease 1 (Fen-1).
  • Taken together with the transcriptional activation of APC gene by alkylating agents and modulation of BER activity, APC may play an important role in carcinogenesis and chemotherapy by determining whether cells with DNA damage survive or undergo apoptosis.

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  • (PMID = 18662849.001).
  • [ISSN] 1872-7980
  • [Journal-full-title] Cancer letters
  • [ISO-abbreviation] Cancer Lett.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA-100247; United States / NCI NIH HHS / CA / R01 CA100247-01; United States / NCI NIH HHS / CA / CA100247-01; United States / NCI NIH HHS / CA / R01 CA097031-01A1; United States / NCI NIH HHS / CA / CA-097031; United States / NCI NIH HHS / CA / CA097031-01A1; United States / NCI NIH HHS / CA / R01 CA097031; United States / NCI NIH HHS / CA / R01 CA100247
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] Ireland
  • [Chemical-registry-number] 0 / Alkylating Agents; EC 2.7.7.- / DNA Polymerase beta; EC 3.1.- / Flap Endonucleases
  • [Number-of-references] 81
  • [Other-IDs] NLM/ NIHMS78341; NLM/ PMC2585005
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54. Kim IJ, Kim K, Kang HC, Jang SG, Park JG: DHPLC analysis of adenomatous polyposis coli (APC) mutations using ready-to-use APC plates: simple detection of multiple base pair deletion mutations. Genet Test; 2008 Jun;12(2):295-8
Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] DHPLC analysis of adenomatous polyposis coli (APC) mutations using ready-to-use APC plates: simple detection of multiple base pair deletion mutations.
  • The adenomatous polyposis coli (APC), which is the susceptible gene for familial adenomatous polyposis (FAP) and sporadic colorectal cancer, spans 15 exons.
  • The open reading frame of APC is 8529 bp, which encodes 2843 amino acids.
  • Thus, we developed a novel APC ready-to-use plate for high-throughput mutational analysis by denaturing high performance liquid chromatography (DHPLC).
  • To prepare the ready-to-use APC plate, all 38 primer pairs and PCR mixtures were aliquoted into individual wells of a 96-well plate, and frozen at -20 degrees C until use.
  • We examined a total of 27 FAP patient samples with APC germline mutations (17 for multiple bp deletions, 1 for 1 bp deletion, 9 for nonsense mutations) and 50 APC-negative noncarriers.
  • All 17 multiple bp deletion mutations were detected during the initial 50 degrees C running analysis and thus ruled out for further analyses.
  • More than 50% of the APC germline mutations were multiple base pair deletions and efficiently selected by omitting time-consuming partial denaturing conditions.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli Protein / genetics. Base Pairing / genetics. Chromatography, High Pressure Liquid / methods. Gene Deletion. Mutation

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  • (PMID = 18554166.001).
  • [ISSN] 1090-6576
  • [Journal-full-title] Genetic testing
  • [ISO-abbreviation] Genet. Test.
  • [Language] eng
  • [Publication-type] Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein
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55. Merenda R, Portale G, Galeazzi F, Tosolini C, Sturniolo GC, Ancona E: Pancreaticoduodenectomy for dysplastic duodenal adenoma in a patient with familial adenomatous polyposis. Tumori; 2008 Nov-Dec;94(6):882-4
MedlinePlus Health Information. consumer health - Intestinal Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pancreaticoduodenectomy for dysplastic duodenal adenoma in a patient with familial adenomatous polyposis.
  • Colorectal polyposis is the main feature of familial adenomatous polyposis (FAP), but benign and malignant lesions have also been described in the stomach, duodenum, small bowel, biliary tract and pancreas.
  • There are few reports on FAP patients with duodenal polyps that developed at a younger age and even fewer on cases with dysplastic degeneration.
  • The progression to carcinoma usually presents quite late in the clinical history of FAP patients, typically at least 20 to 25 years after proctocolectomy.
  • This report described the rare case of a patient presenting with duodenal adenomas with dysplastic changes and tumor infiltration as the first sign of FAP, who was treated by pancreaticoduodenectomy followed by proctocolectomy for subsequent dysplastic changes in colonic polyps.
  • [MeSH-major] Adenoma / surgery. Adenomatous Polyposis Coli / surgery. Colonic Polyps / pathology. Duodenal Neoplasms / surgery. Pancreaticoduodenectomy


56. Pinés Corrales PJ, González-Albarrán O, Peralta M, Roa C, Antón T: Clinically inapparent adrenal mass in a patient with familial adenomatous polyposis. Horm Res; 2006;66(5):207-10
Hazardous Substances Data Bank. HYDROCORTISONE .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinically inapparent adrenal mass in a patient with familial adenomatous polyposis.
  • Familial adenomatous polyposis (FAP) is an autosomal dominant condition characterized by multiple colorectal adenomas that can progress to carcinoma.
  • FAP can be associated with diverse extracolonic manifestation, including desmoid tumors and adrenal masses.
  • We report our experience with a patient diagnosed of FAP, who developed a desmoid tumor and an adrenal mass in the follow-up.
  • To our knowledge, this is the first case in the literature in which a hypersecretion of aldosterone and cortisol in the adrenal mass of a patient diagnosed of FAP has been demonstrated.
  • [MeSH-major] Adenoma / surgery. Adenomatous Polyposis Coli / surgery. Adrenal Gland Neoplasms / surgery. Colorectal Neoplasms / surgery. Intestines / transplantation


57. Barth AI, Caro-Gonzalez HY, Nelson WJ: Role of adenomatous polyposis coli (APC) and microtubules in directional cell migration and neuronal polarization. Semin Cell Dev Biol; 2008 Jun;19(3):245-51
Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Role of adenomatous polyposis coli (APC) and microtubules in directional cell migration and neuronal polarization.
  • These signals lead to modifications of microtubule-associated proteins (MAPs) and point to glycogen synthase kinase (GSK) 3beta as a key regulator of microtubule function during directional migration.
  • This review will summarize these results and then focus on the role of microtubule-binding protein adenomatous polyposis coli (APC) in neuronal polarization and directed migration, and on its regulation by GSK3beta.

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  • (PMID = 18387324.001).
  • [ISSN] 1084-9521
  • [Journal-full-title] Seminars in cell & developmental biology
  • [ISO-abbreviation] Semin. Cell Dev. Biol.
  • [Language] ENG
  • [Grant] United States / NIGMS NIH HHS / GM / GM078270-03; United States / NIGMS NIH HHS / GM / GM078270; United States / NIGMS NIH HHS / GM / GM35527; United States / NIGMS NIH HHS / GM / R01 GM035527; United States / NIGMS NIH HHS / GM / R01 GM078270-03; United States / NIGMS NIH HHS / GM / R37 GM035527; United States / NIGMS NIH HHS / GM / R01 GM078270
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / Microtubule-Associated Proteins
  • [Number-of-references] 95
  • [Other-IDs] NLM/ NIHMS49460; NLM/ PMC2673958
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58. Takahashi M, Kikuchi M, Ohkura N, Yaguchi H, Nagamura Y, Ohnami S, Ushiama M, Yoshida T, Sugano K, Iwama T, Kosugi S, Tsukada T: Detection of APC gene deletion by double competitive polymerase chain reaction in patients with familial adenomatous polyposis. Int J Oncol; 2006 Aug;29(2):413-21
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Detection of APC gene deletion by double competitive polymerase chain reaction in patients with familial adenomatous polyposis.
  • Familial adenomatous polyposis (FAP) is an autosomal dominant familial cancer syndrome caused by germline mutations of the tumor suppressor adenomatous polyposis coli (APC) gene.
  • Heterozygous apc mutations have been identified in the majority of classical FAP patients who develop more than 100 colorectal adenomas.
  • However, classical FAP patients often fail to display germline APC mutations detectable by routine mutation analysis.
  • These apparently mutation-negative cases may be caused by heterozygous large genomic deletions.
  • In the present study, FAP patients who showed no APC germline mutation detectable by the protein truncation assay and direct sequencing of protein coding exons were screened for APC gene deletion by a gene dose assay based on double competitive polymerase chain reaction.
  • Gene dosage measurements within exon 15 of the APC gene identified two patients with gene deletion and one with possible gene duplication among 41 apparently mutation-negative patients.
  • The deleted sequences in the two patients were determined by fine gene dose mapping around the APC gene and nucleotide sequencing of the deletion breakpoints.
  • They were approximately 435-kilobase pair (kb) and 737-kb regions including the whole APC gene and flanked by a 4-base pair repeat and LINE-1 repetitive sequences, respectively.
  • These findings indicate that this gene dose assay is a useful technique to detect large gene deletions of the APC gene and to determine their genomic breakpoints.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli Protein / biosynthesis. Genes, APC. Genetic Predisposition to Disease

  • Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).
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  • (PMID = 16820884.001).
  • [ISSN] 1019-6439
  • [Journal-full-title] International journal of oncology
  • [ISO-abbreviation] Int. J. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Greece
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein
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59. Murakami Y, Uemura K, Hayashidani Y, Sudo T, Sueda T: Relapsing acute pancreatitis due to ampullary adenoma in a patient with familial adenomatous polyposis. J Gastroenterol; 2006 Aug;41(8):798-801
MedlinePlus Health Information. consumer health - Pancreatitis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Relapsing acute pancreatitis due to ampullary adenoma in a patient with familial adenomatous polyposis.
  • A patient with familial adenomatous polyposis (FAP) presented with a relapsing attack of acute pancreatitis.
  • Evaluation using computed tomography, ultrasonography, and duodenoscopy revealed an ampullary adenoma, which was classified as Spigelman's stage III according to Spigelman's criteria.
  • Only a few reports of acute pancreatitis due to ampullary neoplasms in patients with FAP are available.
  • Relapsing acute pancreatitis is another surgical indication for premalignant periampullary neoplasms in FAP.
  • [MeSH-major] Adenoma, Bile Duct / complications. Adenomatous Polyposis Coli / complications. Ampulla of Vater. Common Bile Duct Neoplasms / complications. Pancreatitis / etiology
  • [MeSH-minor] Acute Disease. Adult. Female. Humans. Pancreaticoduodenectomy. Recurrence


60. Kawasaki Y, Tsuji S, Muroya K, Furukawa S, Shibata Y, Okuno M, Ohwada S, Akiyama T: The adenomatous polyposis coli-associated exchange factors Asef and Asef2 are required for adenoma formation in Apc(Min/+)mice. EMBO Rep; 2009 Dec;10(12):1355-62
SciCrunch. Marmoset Gene list: Data: Gene Annotation .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The adenomatous polyposis coli-associated exchange factors Asef and Asef2 are required for adenoma formation in Apc(Min/+)mice.
  • Sporadic and familial colorectal tumours usually harbour biallelic adenomatous polyposis coli (APC)-associated mutations that result in constitutive activation of Wnt signalling.
  • Furthermore, APC activates Asef and Asef2, which are guanine-nucleotide exchange factors specific for Rac1 and Cdc42.
  • Here, we show that Asef and Asef2 expression is aberrantly enhanced in intestinal adenomas and tumours.
  • We also show that deficiency of either Asef or Asef2 significantly reduces the number and size of adenomas in Apc(Min/+) mice, which are heterozygous for an APC mutation and spontaneously develop adenomas in the intestine.
  • We observed that the APC-Asef/Asef2 complex induces c-Jun amino-terminal kinase-mediated transactivation of matrix metalloproteinase 9, and is required for the invasive activity of colorectal tumour cells.
  • These results suggest that Asef and Asef2 have a crucial role in intestinal adenoma formation and tumour progression, and might be promising molecular targets for the treatment of colorectal tumours.
  • [MeSH-major] Adenoma / genetics. Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli / pathology. Genes, APC. Guanine Nucleotide Exchange Factors / physiology. Intestinal Neoplasms / genetics
  • [MeSH-minor] Animals. Disease Models, Animal. Gene Expression Regulation, Enzymologic. HCT116 Cells. Humans. Matrix Metalloproteinase 9 / genetics. Matrix Metalloproteinase 9 / metabolism. Mice. Mice, Inbred C57BL. Mice, Transgenic. Neoplasm Invasiveness. Rho Guanine Nucleotide Exchange Factors. Signal Transduction / genetics. Tumor Cells, Cultured


61. Church J, Berk T, Boman BM, Guillem J, Lynch C, Lynch P, Rodriguez-Bigas M, Rusin L, Weber T, Collaborative Group of the Americas on Inherited Colorectal Cancer: Staging intra-abdominal desmoid tumors in familial adenomatous polyposis: a search for a uniform approach to a troubling disease. Dis Colon Rectum; 2005 Aug;48(8):1528-34
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Staging intra-abdominal desmoid tumors in familial adenomatous polyposis: a search for a uniform approach to a troubling disease.
  • INTRODUCTION: Desmoid tumors are a clinical problem in 12 to 15 percent of patients with familial adenomatous polyposis.
  • CONCLUSION: A way of staging intra-abdominal desmoid tumors is proposed to facilitate stratification by disease severity during collaborative studies of various treatments.
  • [MeSH-major] Abdominal Neoplasms / pathology. Adenomatous Polyposis Coli / pathology. Fibromatosis, Aggressive / pathology. Neoplasms, Multiple Primary / pathology
  • [MeSH-minor] Abdominal Wall / pathology. Clinical Protocols. Genes, APC. Genotype. Humans. Mesentery / pathology. Mutation / genetics. Neoplasm Staging. Patient Care Planning. Peritoneal Neoplasms / pathology. Receptors, Estrogen / analysis. Receptors, Progesterone / analysis

  • Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).
  • Genetic Alliance. consumer health - Familial Polyposis.
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  • (PMID = 15906134.001).
  • [ISSN] 0012-3706
  • [Journal-full-title] Diseases of the colon and rectum
  • [ISO-abbreviation] Dis. Colon Rectum
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Estrogen; 0 / Receptors, Progesterone
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62. De Rosa M, Morelli G, Cesaro E, Duraturo F, Turano M, Rossi GB, Delrio P, Izzo P: Alternative splicing and nonsense-mediated mRNA decay in the regulation of a new adenomatous polyposis coli transcript. Gene; 2007 Jun 15;395(1-2):8-14
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Alternative splicing and nonsense-mediated mRNA decay in the regulation of a new adenomatous polyposis coli transcript.
  • Familial adenomatous polyposis (FAP) is a rare precancerous condition caused by mutations in the adenomatous polyposis coli (apc) gene.
  • Alternative splicing mechanisms involving non-coding and coding exons result in multiple protein variants whose molecular weight ranges between 90 and 300 kDa.
  • We examined the apc 5' coding region and identified nine new transcripts generated from alternative and/or aberrant splicing.
  • Three of these preserve the reading frame and the corresponding proteins include the catalytic domains and the sequences required for beta-catenin regulation.
  • The other six transcripts create a frameshift that produces a premature stop codon; one of these has an additional 77-nucleotide-long exon (1A) between exons 1 and 2 that leads to a frameshift and a premature stop codon in exon 2.
  • Incubation of Caco2 cell lines with cycloheximide, a chemical inhibitor of translation that is known to inhibit also NMD, indicates that the apc mRNA isoform that includes exon 1A is degraded by NMD, thereby suggesting that regulated unproductive splicing and NMD degradation could modulate APC protein expression.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli / metabolism. Alternative Splicing. Genes, APC

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  • (PMID = 17360132.001).
  • [ISSN] 0378-1119
  • [Journal-full-title] Gene
  • [ISO-abbreviation] Gene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / DNA Primers; 0 / RNA, Messenger; 0 / RNA, Neoplasm
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63. Latchford AR, Sturt NJ, Neale K, Rogers PA, Phillips RK: A 10-year review of surgery for desmoid disease associated with familial adenomatous polyposis. Br J Surg; 2006 Oct;93(10):1258-64
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A 10-year review of surgery for desmoid disease associated with familial adenomatous polyposis.
  • BACKGROUND: Desmoid tumours affect 10-25 per cent of patients with familial adenomatous polyposis and represent a major cause of morbidity and mortality.
  • The aim was to review 10 years of desmoid surgery in patients with familial adenomatous polyposis from a single centre.
  • METHODS: Patients who had surgery for desmoid disease between 1994 and 2004 were identified from the Polyposis Registry database and their hospital notes reviewed.
  • Intra-abdominal desmoid resection was associated with a mean resection of 45.55 (range 10-200) cm of small bowel.
  • During this period, one patient died (metastatic duodenal cancer); there was no mortality from desmoid disease.
  • However, disease recurrence remains a major problem.
  • [MeSH-major] Abdominal Neoplasms / surgery. Adenomatous Polyposis Coli / complications. Fibromatosis, Aggressive / surgery

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  • [CommentIn] Br J Surg. 2007 Feb;94(2):250-1 [17256816.001]
  • (PMID = 16952208.001).
  • [ISSN] 0007-1323
  • [Journal-full-title] The British journal of surgery
  • [ISO-abbreviation] Br J Surg
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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64. García-Lozano JR, Cordero C, Fernández-Suárez A, Encarnación M, Pizarro A, Núñez-Roldán A: APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations. Genet Test; 2005;9(1):37-40
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations.
  • Familial adenomatous polyposis (FAP) is a disease characterized by the presence of hundreds of adenomatous polyps in the colon and rectum which, if not treated, develop into colorectal cancer.
  • FAP is an autosomal dominantly inherited disorder caused by mutation in the APC gene.
  • The aim of this study was to search for germ-line mutations of the APC gene in unrelated FAP families from southern Spain.
  • By direct sequencing of all APC gene exons, we found the mutation in 13 of 15 unrelated FAP families studied.
  • Two patients presented de novo germ-line mutations.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Genes, APC. Germ-Line Mutation

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  • (PMID = 15857185.001).
  • [ISSN] 1090-6576
  • [Journal-full-title] Genetic testing
  • [ISO-abbreviation] Genet. Test.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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65. Oakley GJ 3rd, Schraut WH, Peel R, Krasinskas A: Diffuse filiform polyposis with unique histology mimicking familial adenomatous polyposis in a patient without inflammatory bowel disease. Arch Pathol Lab Med; 2007 Dec;131(12):1821-4
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diffuse filiform polyposis with unique histology mimicking familial adenomatous polyposis in a patient without inflammatory bowel disease.
  • Filiform polyposis is an uncommon entity that is most often encountered in the colon of patients with a history of inflammatory bowel disease (IBD).
  • Filiform polyposis is characterized by a large number of "wormlike" polyps lined by histologically normal colonic mucosa.
  • These polyps can mimic adenomatous polyps.
  • Neuromuscular and vascular hamartoma of the small bowel is a rare, focal disorder characterized by disorganized smooth muscle fascicles throughout the submucosa accompanied by fibrosis, nerve fibers, ganglion cells, and vessels.
  • To our knowledge, there is only one report of this lesion in the large bowel (cecum), where it presented as a mass.
  • Here we report the case of a 50-year-old man with no known history or symptoms of IBD presenting with filiform polyposis involving the entire colon, clinically mimicking familial adenomatous polyposis, and showing histologic features similar to neuromuscular and vascular hamartoma of the small bowel.
  • [MeSH-major] Adenomatous Polyposis Coli / pathology. Inflammatory Bowel Diseases / pathology. Intestinal Polyposis / pathology
  • [MeSH-minor] Diagnosis, Differential. Humans. Male. Middle Aged

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  • (PMID = 18081442.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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66. Asada N, Sanada K: LKB1-mediated spatial control of GSK3beta and adenomatous polyposis coli contributes to centrosomal forward movement and neuronal migration in the developing neocortex. J Neurosci; 2010 Jun 30;30(26):8852-65
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] LKB1-mediated spatial control of GSK3beta and adenomatous polyposis coli contributes to centrosomal forward movement and neuronal migration in the developing neocortex.
  • This enables the microtubule plus-end binding protein adenomatous polyposis coli (APC) to localize at the distal ends of microtubules in the tip, thereby stabilizing microtubules near the leading edge.
  • We also show that LKB1 activity, Ser9 phosphorylation of GSK3beta, and APC binding to the distal ends of microtubules are required for the microtubule stabilization in the leading process tip, centrosomal forward movement, and neuronal migration.
  • These findings suggest that LKB1-induced spatial control of GSK3beta and APC at the leading process tip mediates the stabilization of microtubules within the tip and is critical for centrosomal forward movement and neuronal migration in the developing neocortex.
  • [MeSH-major] Adenomatous Polyposis Coli Protein / metabolism. Centrosome / physiology. Glycogen Synthase Kinase 3 / metabolism. Neocortex / growth & development. Neurons / physiology. Protein-Serine-Threonine Kinases / metabolism

  • Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).
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  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
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  • (PMID = 20592207.001).
  • [ISSN] 1529-2401
  • [Journal-full-title] The Journal of neuroscience : the official journal of the Society for Neuroscience
  • [ISO-abbreviation] J. Neurosci.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 452VLY9402 / Serine; EC 2.7.1.- / Stk11 protein, mouse; EC 2.7.11.1 / Protein-Serine-Threonine Kinases; EC 2.7.11.1 / glycogen synthase kinase 3 beta; EC 2.7.11.26 / Glycogen Synthase Kinase 3
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67. Rosenberg MM, Yang F, Giovanni M, Mohn JL, Temburni MK, Jacob MH: Adenomatous polyposis coli plays a key role, in vivo, in coordinating assembly of the neuronal nicotinic postsynaptic complex. Mol Cell Neurosci; 2008 Jun;38(2):138-52
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Adenomatous polyposis coli plays a key role, in vivo, in coordinating assembly of the neuronal nicotinic postsynaptic complex.
  • We show here that adenomatous polyposis coli (APC) organizes a multi-molecular complex that is essential for targeting alpha3(*)nAChRs to synapses.
  • APC interaction with microtubule plus-end binding protein EB1 is required for alpha3(*)nAChR surface membrane insertion and stabilization.
  • APC brings together EB1, the key cytoskeletal regulators macrophin and IQGAP1, and 14-3-3 adapter protein at nicotinic synapses.
  • 14-3-3, in turn, links the alpha3-subunit to APC.
  • This multi-molecular APC complex stabilizes the local microtubule and F-actin cytoskeleton and links postsynaptic components to the cytoskeleton--essential functions for controlling the molecular composition and stability of synapses.
  • This work identifies macrophin, IQGAP1 and 14-3-3 as novel nicotinic synapse components and defines a new role for APC as an in vivo coordinator of nicotinic postsynaptic assembly in vertebrate neurons.

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  • (PMID = 18407517.001).
  • [ISSN] 1095-9327
  • [Journal-full-title] Molecular and cellular neurosciences
  • [ISO-abbreviation] Mol. Cell. Neurosci.
  • [Language] ENG
  • [Grant] United States / NIDDK NIH HHS / DK / P30 DK34928; United States / NIDDK NIH HHS / DK / P30 DK034928; United States / NINDS NIH HHS / NS / R01 NS021725-23; United States / NINDS NIH HHS / NS / NS021725-23; United States / NINDS NIH HHS / NS / NS21725; United States / NINDS NIH HHS / NS / P30 NS047243; United States / NINDS NIH HHS / NS / R01 NS021725
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / 14-3-3 Proteins; 0 / Adenomatous Polyposis Coli Protein; 0 / Receptors, Glycine; 0 / Receptors, Nicotinic; 0 / alpha7 Nicotinic Acetylcholine Receptor; 0 / nicotinic receptor subunit alpha3
  • [Other-IDs] NLM/ NIHMS56369; NLM/ PMC2502068
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68. van Esch AA, Drenth JP, te Morsche RH, Jansen JB, Nagengast FM: Recurrent idiopathic pancreatitis in familial adenomatous polyposis: report of a case-series and review of the literature. Fam Cancer; 2007;6(3):275-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Recurrent idiopathic pancreatitis in familial adenomatous polyposis: report of a case-series and review of the literature.
  • Familial adenomatous polyposis (FAP) is characterized by the development of multiple adenomatous polyps predominantly in the colon but also in the duodenum.
  • Scattered case reports indicate that there is a risk for pancreatitis in FAP.
  • The most likely cause of pancreatitis in FAP is obstructing ampullary adenomas.
  • We describe 7 FAP patients who experienced one or more episodes of pancreatitis.
  • Two patients experienced pancreatitis after endoscopic treatment of ampullary adenoma.
  • The cause of the pancreatitis in 5 of 7 patients could not be determined, as none of the patients had obstruction of the ampulla.
  • Furthermore, other risk factors for pancreatitis such as pancreatic serine protease inhibitor Kazal type I (SPINK1) gene mutations were ruled out.
  • A review of literature identified 20 FAP patients who developed the first episode of pancreatitis at a mean age of 45 years (range 23-72 years).
  • [MeSH-major] Adenomatous Polyposis Coli / complications. Duodenal Neoplasms / complications. Pancreatitis, Chronic / complications. Polyps / complications
  • [MeSH-minor] Adolescent. Adult. Carrier Proteins / genetics. Female. Humans. Male. Middle Aged. Recurrence. Risk Factors


69. Miyaki M, Yamaguchi T, Iijima T, Funata N, Mori T: Difference in the role of loss of heterozygosity at 10p15 (KLF6 locus) in colorectal carcinogenesis between sporadic and familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer patients. Oncology; 2006;71(1-2):131-5
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Difference in the role of loss of heterozygosity at 10p15 (KLF6 locus) in colorectal carcinogenesis between sporadic and familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer patients.
  • OBJECTIVES: To clarify the role of the KLF6 (Kruppel-like factor 6) locus in multistep colorectal carcinogenesis, we analyzed loss of heterozygosity (LOH) at 10p15 (KLF6 locus) and mutations of the KLF6gene in 298 colorectal tumors at various pathological stages of sporadic and familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) patients.
  • Invasive carcinomas from FAP patients showed only 6% LOH, and invasive carcinomas from HNPCC patients exhibited 0% LOH.
  • CONCLUSIONS: The present data suggest that LOH of the KLF6 locus at chromosome 10p15 contributes to the invasion step from an intramucosal carcinoma to an invasive carcinoma specifically in sporadic colorectal carcinogenesis, but is rarely involved in the carcinogenesis of FAP and HNPCC cases.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Chromosomes, Human, Pair 10 / genetics. Colorectal Neoplasms, Hereditary Nonpolyposis / genetics. Kruppel-Like Transcription Factors / genetics. Loss of Heterozygosity. Mutation / genetics. Proto-Oncogene Proteins / genetics
  • [MeSH-minor] Adenoma / genetics. Humans. Liver Neoplasms / genetics. Liver Neoplasms / secondary. Neoplasm Invasiveness / pathology. Polymerase Chain Reaction. Polymorphism, Single-Stranded Conformational


70. Nzegwu MA, Osuagwu CC, Machembarrena JM, Ezeofor S, Picardo NG, Emegakor C, Odiakosa T: Familial adenomatous polyposis complicated with an invasive colo-rectal adenocarcinoma in a 26-year-old Nigerian male - a rare finding. Eur J Cancer Care (Engl); 2007 Mar;16(2):198-200
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Familial adenomatous polyposis complicated with an invasive colo-rectal adenocarcinoma in a 26-year-old Nigerian male - a rare finding.
  • Familial adenomatous polyposis is very rare in our environment.
  • This condition occurring with a complication of a colorectal cancer has never been reported to the best of our knowledge.
  • We present a case of a 26-year-old Nigerian man who came to us in February this year with a 10-year history of watery stool, which is also mucoid with tenesmus.
  • There was also associated weight loss and colicky abdominal pains.
  • He had also previously had a previous proctoscopy and rectal biopsy that showed numerous adenomatous polyps with dysplastic changes confirmed by histology.
  • Barium enema revealed multiple polyps up to the right side of the transverse colon.
  • Repeat histology after panproctocolectomy confirmed foci of invasive adenocarcinoma of the colon up to the muscle coat.
  • [MeSH-major] Adenocarcinoma / pathology. Adenomatous Polyposis Coli / pathology. Colonic Neoplasms / pathology. Neoplasms, Multiple Primary / pathology

  • Genetic Alliance. consumer health - Familial Adenomatous Polyposis (FAP).
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  • (PMID = 17371432.001).
  • [ISSN] 0961-5423
  • [Journal-full-title] European journal of cancer care
  • [ISO-abbreviation] Eur J Cancer Care (Engl)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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71. Filippakis GM, Zografos G, Pararas N, Lanitis S, Georgiadou D, Filippakis MG: Spontaneous regression of rectal polyps following abdominal colectomy and ileorectal anastomosis for familial adenomatous polyposis, without sulindac treatment: report of four cases. Endoscopy; 2007 Jul;39(7):665-8
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Spontaneous regression of rectal polyps following abdominal colectomy and ileorectal anastomosis for familial adenomatous polyposis, without sulindac treatment: report of four cases.
  • The only curative treatment for familial adenomatous polyposis (FAP) is prophylactic surgery and the two most popular options are total colectomy with ileorectal anastomosis and restorative proctocolectomy with ileal pouch-anal anastomosis.
  • Today, ileal pouch-anal anastomosis has gained wider acceptance as a safer procedure, but ileorectal anastomosis still remains an option, especially for young patients with a moderate phenotype of the disease and limited polyps in the rectum.
  • We present the cases of four patients with FAP treated by colectomy and ileorectal anastomosis, who had immediate, complete spontaneous regression of multiple polyps in the rectal stump, with no further need for sulindac treatment.
  • [MeSH-major] Adenomatous Polyposis Coli / surgery. Colectomy. Ileum / surgery. Neoplasm Regression, Spontaneous. Polyps / pathology. Rectal Neoplasms / pathology. Rectum / surgery

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  • (PMID = 17611924.001).
  • [ISSN] 1438-8812
  • [Journal-full-title] Endoscopy
  • [ISO-abbreviation] Endoscopy
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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72. Senda T, Shimomura A, Iizuka-Kogo A: Adenomatous polyposis coli (Apc) tumor suppressor gene as a multifunctional gene. Anat Sci Int; 2005 Sep;80(3):121-31
Genetics Home Reference. consumer health - APC gene.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Adenomatous polyposis coli (Apc) tumor suppressor gene as a multifunctional gene.
  • The adenomatous polyposis coli (Apc) gene is mutated in familial adenomatous polyposis and in sporadic colorectal tumors.
  • The Apc gene product (APC), basically a cytoplasmic protein, blocks cell cycle progression and plays crucial roles in development.
  • The APC binds to beta-catenin, axin and glycogen synthase kinase 3beta to form a large protein complex, in which beta-catenin is phosphorylated and broken down, resulting in negative regulation of the Wnt signaling pathway.
  • Most of the mutated Apc genes in colorectal tumors lack beta-catenin-binding regions and fail to inhibit Wnt signaling, leading to overproliferation of tumor cells.
  • The APC, having some nuclear localizing signals in its molecule, can also be localized in the nucleus.
  • The nuclear APC exports excess beta-catenin to the cytoplasm.
  • Through its C-terminus, APC binds to post-synaptic density discs large zonula occludens domain-containing proteins, such as discs large (DLG) and post-synaptic density (PSD)-95, and may play important roles in epithelial morphogenesis, brain development and neuronal functions.
  • In addition, APC is involved in cell motility through its association with microtubules and APC-stimulated guanine nucleotide exchange factor.
  • Colocalization of APC and DLG is dependent on microtubules.
  • The Apc gene is highly expressed in the embryonic and postnatal developing brain.
  • Recently, we found that APC is required for the activity of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors by facilitating the clustering of PSD-95 and these receptors at the postsynapse.
  • In addition, APC is present in astrocytes, although its role in astrocytes is, as yet, unknown.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Cytoskeletal Proteins / genetics. Genes, APC
  • [MeSH-minor] Animals. Cell Line. Dogs. Gene Expression Regulation, Neoplastic. Humans. Intercellular Signaling Peptides and Proteins / metabolism. Signal Transduction / physiology. Trans-Activators / metabolism. Wnt Proteins. beta Catenin

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  • (PMID = 16158975.001).
  • [ISSN] 1447-6959
  • [Journal-full-title] Anatomical science international
  • [ISO-abbreviation] Anat Sci Int
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] Australia
  • [Chemical-registry-number] 0 / APC2 protein, human; 0 / CTNNB1 protein, human; 0 / Cytoskeletal Proteins; 0 / Intercellular Signaling Peptides and Proteins; 0 / Trans-Activators; 0 / Wnt Proteins; 0 / beta Catenin
  • [Number-of-references] 72
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73. Miclea RL, Karperien M, Langers AM, Robanus-Maandag EC, van Lierop A, van der Hiel B, Stokkel MP, Ballieux BE, Oostdijk W, Wit JM, Vasen HF, Hamdy NA: APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis. J Bone Miner Res; 2010 Dec;25(12):2624-32
MedlinePlus Health Information. consumer health - Bone Density.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis.
  • Adenomatous polyposis coli (APC) represents the key intracellular gatekeeper of β-catenin turnover, and heterozygous germ-line mutations in the APC gene cause familial adenomatous polyposis (FAP).
  • Whether APC mutations affect bone mass has not been previously investigated.
  • We conducted a cross-sectional study evaluating skeletal status in FAP patients with a documented APC mutation.
  • Twenty-two FAP patients with a mean age of 42 years (54.5% women) were included in this study.
  • Mean bone mineral density (BMD) Z-scores were significantly increased above normal at all measured sites: lumbar spine (p < .01), total hip (p < .01), femoral neck (p < .05), and trochanter (p < .01).
  • There was a significant positive correlation between procollagen type I N-terminal propeptide (P1NP) and β-crosslaps (β-CTX) (r = 0.70, p < .001) and between these markers and sclerostin and BMD measurements.
  • We demonstrate that FAP patients display a significantly higher than normal mean BMD compared with age- and sex-matched healthy controls in the presence of a balanced bone turnover.
  • Our data suggest a state of "controlled" activation of the Wnt signaling pathway in heterozygous carriers of APC mutations, most likely owing to upregulation of cytoplasmic β-catenin levels.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli / physiopathology. Adenomatous Polyposis Coli Protein / genetics. Bone Density / genetics. Genetic Association Studies. Mutation / genetics
  • [MeSH-minor] Adult. Bone Remodeling / physiology. Collagen / genetics. Collagen Type I / genetics. Demography. Exons / genetics. Female. Humans. Lumbar Vertebrae / pathology. Lumbar Vertebrae / physiopathology. Lumbar Vertebrae / radionuclide imaging. Male. Middle Aged. Peptide Fragments / genetics. Young Adult

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  • [Copyright] Copyright © 2010 American Society for Bone and Mineral Research.
  • [ErratumIn] J Bone Miner Res. 2011 Feb;26(2):439
  • (PMID = 20564245.001).
  • [ISSN] 1523-4681
  • [Journal-full-title] Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • [ISO-abbreviation] J. Bone Miner. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / APC protein, human; 0 / Adenomatous Polyposis Coli Protein; 0 / Collagen Type I; 0 / Peptide Fragments; 0 / glutamyl-lysyl-alanyl-histidyl-aspartyl-glycyl-glycyl-arginine; 9007-34-5 / Collagen
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74. Church J, Lynch C, Neary P, LaGuardia L, Elayi E: A desmoid tumor-staging system separates patients with intra-abdominal, familial adenomatous polyposis-associated desmoid disease by behavior and prognosis. Dis Colon Rectum; 2008 Jun;51(6):897-901
Genetic Alliance. consumer health - Familial Polyposis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A desmoid tumor-staging system separates patients with intra-abdominal, familial adenomatous polyposis-associated desmoid disease by behavior and prognosis.
  • PURPOSE: Intra-abdominal desmoid tumors associated with familial adenomatous polyposis are heterogeneous.
  • METHODS: The staging system was applied to 101 patients with familial adenomatous polyposis.
  • Eight patients with Stage I disease received medical treatment, as did 26 with Stage II, 16 with Stage III, and 15 with Stage IV.
  • No patient with Stages I or II disease died.
  • Finally 89 percent with Stage I, 65 percent with Stage II, 59 percent with Stage III, and 50 percent with Stage IV disease were asymptomatic; 81 percent of Stage I desmoids, 78 percent of Stage II, 42 percent of Stage III, and 28 percent of Stage IV were stable or disappeared.
  • [MeSH-major] Adenomatous Polyposis Coli / complications. Fibromatosis, Abdominal / pathology. Fibromatosis, Aggressive / pathology. Neoplasm Staging / methods

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  • (PMID = 18322756.001).
  • [ISSN] 1530-0358
  • [Journal-full-title] Diseases of the colon and rectum
  • [ISO-abbreviation] Dis. Colon Rectum
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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75. Zhou XL, Giacobini M, Anderlid BM, Anckarsäter H, Omrani D, Gillberg C, Nordenskjöld M, Lindblom A: Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD). Am J Med Genet B Neuropsychiatr Genet; 2007 Apr 5;144B(3):351-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).
  • We serendipitously identified a single nucleotide polymorphism (SNP), 8636C>A (rs1804197) in the 3'-untranslated region of the adenomatous polyposis coli (APC) gene to be associated with autism spectrum disorder (ASD).
  • In order to gain further evidence for the association between the APC locus and ASD, we genotyped four additional adjacent common SNPs (rs2229992, rs42427, rs459552, and rs465899) in the coding regions within the APC gene in a set of Swedish ASDs and controls.
  • One common haplotype TGAG was found to be associated with ASD after haplotype analysis using both Haploview v3.1.1 (P = 0.006) and COCAPHASE v2.403 (P = 0.030).
  • This result is the first to suggest that the genomic locus at APC is associated with ASD, and that the APC gene itself is a good predisposing candidate to be evaluated in future studies due to its important role in neuronal development and function.
  • [MeSH-major] Autistic Disorder / genetics. Genes, APC. Genetic Linkage. Polymorphism, Single Nucleotide

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  • [Copyright] (c) 2006 Wiley-Liss, Inc.
  • (PMID = 17221838.001).
  • [ISSN] 1552-4841
  • [Journal-full-title] American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • [ISO-abbreviation] Am. J. Med. Genet. B Neuropsychiatr. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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76. Goto A, Nakajima J, Hara K, Niki T, Fukayama M: Lung adenocarcinoma associated with familial adenomatous polyposis. Clear cell carcinoma with beta-catenin accumulation accompanied by atypical adenomatous hyperplasia. Virchows Arch; 2005 Jan;446(1):73-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Lung adenocarcinoma associated with familial adenomatous polyposis. Clear cell carcinoma with beta-catenin accumulation accompanied by atypical adenomatous hyperplasia.
  • A 46-year-old man presented with a lung tumor 17 years after a subtotal colectomy and 13 years after a partial duodenectomy for familial adenomatous polyposis (FAP).
  • There had been no malignant transformation in the specimens from his colectomy and duodenectomy, and a current gastrointestinal investigation revealed no evidence of malignancy.
  • Pathological analysis of the lung tumor demonstrated adenocarcinoma with clear cells and a papillary structure, accompanied by tiny tumorous nodules in the background lung parenchyma.
  • Many of the nodules were multifocal adenocarcinoma; however, some of the nodules demonstrated atypical adenomatous hyperplasia (AAH).
  • This is the first case report of a lung adenocarcinoma accompanied by AAH in a FAP patient.
  • Immunohistochemical and loss of heterozygosity studies revealed unique features of the lesions reflecting a disruption of the adenomatous poliposis coli-beta-catenin pathway.
  • [MeSH-major] Adenocarcinoma / pathology. Adenomatous Polyposis Coli / complications. Cytoskeletal Proteins / metabolism. Lung Neoplasms / pathology. Trans-Activators / metabolism
  • [MeSH-minor] Genes, APC. Humans. Hyperplasia. Immunohistochemistry. Loss of Heterozygosity. Male. Middle Aged. beta Catenin

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  • (PMID = 15660284.001).
  • [ISSN] 0945-6317
  • [Journal-full-title] Virchows Archiv : an international journal of pathology
  • [ISO-abbreviation] Virchows Arch.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / CTNNB1 protein, human; 0 / Cytoskeletal Proteins; 0 / Trans-Activators; 0 / beta Catenin
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77. Mireskandari S, Sangster J, Meiser B, Thewes B, Groombridge C, Spigelman A, Andrews L: Psychosocial impact of familial adenomatous polyposis on young adults: a qualitative study. J Genet Couns; 2009 Oct;18(5):409-17
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Psychosocial impact of familial adenomatous polyposis on young adults: a qualitative study.
  • The aim of this study was to explore in detail the psychosocial impact of either having familial adenomatous polyposis (FAP) or being at risk for FAP amongst young adults.
  • In-depth interviews were conducted with eleven individuals aged 18-35 with a clinical or genetic diagnosis of, or at risk of developing FAP.
  • While being at risk did not seem to have a major psychosocial impact upon clinically unaffected participants, clinically affected individuals discussed a number of major stressors including issues in relation to changes in body image and physical functioning as a result of surgery, concerns about discussing FAP with new partners, difficulties in relation to childbearing decision-making, and impact on employment.
  • Genetic counseling was described as being highly effective in providing support, but most participants were not aware of any other support services.
  • Providing longer-term support through ongoing genetic counseling appears necessary to adequately address the ongoing challenges faced by young adults who are dealing with FAP.
  • [MeSH-major] Adenomatous Polyposis Coli / psychology
  • [MeSH-minor] Adaptation, Psychological. Adolescent. Adult. Female. Genetic Counseling. Genetic Predisposition to Disease. Humans. Male. Young Adult

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  • (PMID = 19479366.001).
  • [ISSN] 1573-3599
  • [Journal-full-title] Journal of genetic counseling
  • [ISO-abbreviation] J Genet Couns
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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78. Seraglia R, Molin L, Tonidandel L, Pucciarelli S, Agostini M, Urso ED, Bedin C, Quaia M, Nitti D, Traldi P: An investigation on the nature of the peptide at m/z 904, overexpressed in plasma of patients with colorectal cancer and familial adenomatous polyposis. J Mass Spectrom; 2007 Dec;42(12):1606-12
MedlinePlus Health Information. consumer health - Colorectal Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] An investigation on the nature of the peptide at m/z 904, overexpressed in plasma of patients with colorectal cancer and familial adenomatous polyposis.
  • Among them the peptide with molecular weight 903 Da was the most abundant one, with a mean +/- (SD) relative abundance of 37 +/- 17% and a frequency over 60%.
  • Interestingly, also in plasma samples of ten subjects affected by familial adenomatous polyposis (FAP), the peptide with molecular weight 903 was overexpressed.
  • In this investigation, MALDI/MS/MS experiments were carried out on the ion at m/z 904 detected in the MALDI mass spectra of CRC and FAP patients.
  • In the case of subjects affected by a particular FAP syndrome, the MALDI/MS/MS spectra were quite different from those obtained from CRC and FAP patients.
  • In fact, two sequences have been evidenced: RPPGFSPF belonging to kininogen-1 precursor, and PRKSSSSR belonging to Forkhead box protein 01A.
  • [MeSH-major] Adenomatous Polyposis Coli / chemistry. Biomarkers, Tumor / blood. Colorectal Neoplasms / chemistry. Neoplasm Proteins / blood. Peptides / blood


79. Yokota Y, Kim WY, Chen Y, Wang X, Stanco A, Komuro Y, Snider W, Anton ES: The adenomatous polyposis coli protein is an essential regulator of radial glial polarity and construction of the cerebral cortex. Neuron; 2009 Jan 15;61(1):42-56
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The adenomatous polyposis coli protein is an essential regulator of radial glial polarity and construction of the cerebral cortex.
  • Using conditional gene targeting in mice, we demonstrate that adenomatous polyposis coli (APC) serves an essential function in the maintenance of polarized radial glial scaffold during brain development.
  • In the absence of APC, radial glial cells lose their polarity and responsiveness to the extracellular polarity maintenance cues, such as neuregulin-1.
  • Elimination of APC further leads to marked instability of the radial glial microtubule cytoskeleton.
  • The resultant changes in radial glial function and loss of APC in radial glial progeny lead to defective generation and migration of cortical neurons, severely disrupted cortical layer formation, and aberrant axonal tract development.
  • Thus, APC is an essential regulator of radial glial polarity and is critical for the construction of cerebral cortex in mammals.

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  • (PMID = 19146812.001).
  • [ISSN] 1097-4199
  • [Journal-full-title] Neuron
  • [ISO-abbreviation] Neuron
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / R01 NS050968; United States / NIMH NIH HHS / MH / MH63660; United States / NIMH NIH HHS / MH / R01 MH060929-11; United States / NIMH NIH HHS / MH / R01 MH060929-10; United States / NIMH NIH HHS / MH / MH060929-10; United States / NINDS NIH HHS / NS / P30 NS045892; United States / NINDS NIH HHS / NS / NS050968; United States / NIMH NIH HHS / MH / R01 MH060929; United States / NIMH NIH HHS / MH / MH060929-11; United States / NIMH NIH HHS / MH / R01 MH063660; United States / NINDS NIH HHS / NS / NS045892
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / Intermediate Filament Proteins; 0 / Nerve Tissue Proteins; 0 / Nes protein, mouse; 0 / Nestin; 0 / Neuregulin-1; 0 / beta Catenin
  • [Other-IDs] NLM/ NIHMS92407; NLM/ PMC2804250
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80. Umeno J, Matsumoto T, Esaki M, Kukita Y, Tahira T, Yanaru-Fujisawa R, Nakamura S, Arima H, Hirahashi M, Hayashi K, Iida M: Impact of group IVA cytosolic phospholipase A2 gene polymorphisms on phenotypic features of patients with familial adenomatous polyposis. Int J Colorectal Dis; 2010 Mar;25(3):293-301
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Impact of group IVA cytosolic phospholipase A2 gene polymorphisms on phenotypic features of patients with familial adenomatous polyposis.
  • The aim of this study was to elucidate the possible associations between cPLA ( 2 )alpha gene polymorphisms and phenotypic features of patients with familial adenomatous polyposis (FAP).
  • PATIENTS AND METHODS: A tag single nucleotide polymorphisms (SNPs)-based genotype-phenotype association study of the cPLA ( 2 )alpha gene was conducted in 73 Japanese patients from 59 families with FAP.
  • The genotype-phenotype association in relation to the adenomatous polyposis coli (APC) gene mutation was also assessed.
  • RESULTS: The single SNP analysis showed that rs3820185 C allele [odds ratio (OR), 2.5; 95% confidence interval (CI), 1.2-4.9] and rs127446200 GG genotype (OR, 10.9; 95%CI, 1.6-69.8), were more frequent in patients with gastric fundic gland polyposis (FGP) than in those without.
  • Rs12749354 C allele was more frequently found in patients with small intestinal adenoma (OR, 7.0; 95% CI, 1.5-30.4; p = 0.008).
  • This association was also significant when adjusted for covariates (age, sex, and APC mutation) in a logistic regression analysis (adjusted OR, 7.4; 95% CI, 1.2-64.2; p = 0.027).
  • CONCLUSIONS: The cPLA ( 2 )alpha gene may be a possible disease modifier gene in FAP.
  • [MeSH-major] Adenomatous Polyposis Coli / enzymology. Adenomatous Polyposis Coli / pathology. Group IV Phospholipases A2 / genetics. Polymorphism, Single Nucleotide / genetics
  • [MeSH-minor] Adenomatous Polyposis Coli Protein / genetics. Adolescent. Adult. Aged. Alleles. Child. Female. Genetic Predisposition to Disease. Haplotypes / genetics. Humans. Male. Middle Aged. Mutation / genetics. Phenotype. Young Adult

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  • (PMID = 19795129.001).
  • [ISSN] 1432-1262
  • [Journal-full-title] International journal of colorectal disease
  • [ISO-abbreviation] Int J Colorectal Dis
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; EC 3.1.1.4 / Group IV Phospholipases A2; EC 3.1.1.4 / PLA2G4A protein, human
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81. Aretz S, Stienen D, Friedrichs N, Stemmler S, Uhlhaas S, Rahner N, Propping P, Friedl W: Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Hum Mutat; 2007 Oct;28(10):985-92
SciCrunch. OMIM: Data: Gene Annotation .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).
  • During APC mutation screening in 1,248 unrelated patients with familial adenomatous polyposis (FAP), we identified 75 cases with an assumed or confirmed de novo mutation.
  • Prescreening methods (protein truncation test [PTT], DHPLC) indicated the presence of somatic mosaicism in eight cases (11%).
  • The eight mutations identified as mosaic are localized within codons 216-1464 of the APC gene.
  • According to the known genotype-phenotype correlation, patients with mutations in this region exhibit typical or severe FAP.
  • However, six of the eight patients presented with an attenuated or atypical polyposis phenotype.
  • Our data demonstrate that in a fraction of FAP patients the causative APC mutation may not be detected due to weak signals or somatic mosaicism that is restricted to tissues other than blood.
  • Some of the deviations from the expected phenotype in FAP can be explained by the presence of somatic mosaicism.
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Genes, APC. Mosaicism
  • [MeSH-minor] Adenoma / genetics. Adenoma / metabolism. Base Sequence. Codon. DNA / metabolism. Genotype. Humans. Leukocytes / metabolism. Loss of Heterozygosity. Molecular Sequence Data. Mutation. Phenotype. Tissue Distribution

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  • [Copyright] Copyright 2007 Wiley-Liss, Inc.
  • (PMID = 17486639.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Codon; 9007-49-2 / DNA
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82. Kuraguchi M, Wang XP, Bronson RT, Rothenberg R, Ohene-Baah NY, Lund JJ, Kucherlapati M, Maas RL, Kucherlapati R: Adenomatous polyposis coli (APC) is required for normal development of skin and thymus. PLoS Genet; 2006 Sep 15;2(9):e146
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Adenomatous polyposis coli (APC) is required for normal development of skin and thymus.
  • The tumor suppressor gene Apc (adenomatous polyposis coli) is a member of the Wnt signaling pathway that is involved in development and tumorigenesis.
  • Heterozygous knockout mice for Apc have a tumor predisposition phenotype and homozygosity leads to embryonic lethality.
  • To understand the role of Apc in development we generated a floxed allele.
  • Histological and immunochemical examinations revealed that K14-cre-mediated Apc loss resulted in aberrant growth in many ectodermally derived squamous epithelia, including hair follicles, teeth, and oral and corneal epithelia.
  • The aberrant growth of hair follicles and other appendages as well as the thymic abnormalities in K14-cre; Apc(CKO/CKO) mice suggest the Apc gene is crucial in embryonic cells to specify epithelial cell fates in organs that require epithelial-mesenchymal interactions for their development.
  • [MeSH-major] Adenomatous Polyposis Coli Protein / metabolism. Skin / growth & development. Thymus Gland / growth & development
  • [MeSH-minor] Alleles. Animals. Embryo Loss. Embryo, Mammalian / abnormalities. Gene Expression Regulation. Genotype. Hair Follicle / cytology. Hair Follicle / pathology. Hedgehog Proteins / genetics. Humans. Keratins / genetics. Mice. Mice, Inbred C57BL. Mice, Knockout. Mice, Nude. Molecular Sequence Data. Organ Specificity. RNA, Messenger / genetics. RNA, Messenger / metabolism. Tooth / cytology. Tooth / pathology. beta Catenin / genetics

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  • (PMID = 17002498.001).
  • [ISSN] 1553-7404
  • [Journal-full-title] PLoS genetics
  • [ISO-abbreviation] PLoS Genet.
  • [Language] eng
  • [Databank-accession-numbers] GENBANK/ U13897; RefSeq/ NM/ 002230/ NM/ 004655/ NM/ 007462/ NM/ 007614/ NM/ 008412/ NM/ 008473/ NM/ 008476/ NM/ 008508/ NM/ 009170/ NM/ 010051/ NM/ 010703/ NM/ 012325/ NM/ 014970/ NM/ 015320/ NM/ 016958/ NM/ 027011/ NM/ 031170
  • [Grant] United States / NIEHS NIH HHS / ES / ES-11040; United States / NCI NIH HHS / CA / U01 CA084301; United States / NIDCR NIH HHS / DE / R37 DE011697; United States / NIDCR NIH HHS / DE / R01 DE011697; United States / NIDCR NIH HHS / DE / DE-16140; United States / NIDCR NIH HHS / DE / DE-11697; United States / NCI NIH HHS / CA / CA-084301; United States / NIEHS NIH HHS / ES / U01 ES011040; United States / NIDCR NIH HHS / DE / R01 DE016140
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / Hedgehog Proteins; 0 / RNA, Messenger; 0 / Shh protein, mouse; 0 / beta Catenin; 68238-35-7 / Keratins
  • [Other-IDs] NLM/ PMC1564426
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83. Nadauld LD, Shelton DN, Chidester S, Yost HJ, Jones DA: The zebrafish retinol dehydrogenase, rdh1l, is essential for intestinal development and is regulated by the tumor suppressor adenomatous polyposis coli. J Biol Chem; 2005 Aug 26;280(34):30490-5
ZFIN. ZFIN .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The zebrafish retinol dehydrogenase, rdh1l, is essential for intestinal development and is regulated by the tumor suppressor adenomatous polyposis coli.
  • Retinoic acid (RA) is a potent signaling molecule that plays important roles in multiple and diverse developmental processes.
  • The contribution of retinoic acid to promoting the development and differentiation of the vertebrate intestine and the factors that regulate RA production in the gut remain poorly defined.
  • Knockdown of rdh1l results in a robust RA-deficient phenotype including lack of intestinal differentiation, which can be rescued by the addition of exogenous retinoic acid.
  • We report that adenomatous polyposis coli (APC) mutant zebrafish harbor an RA-deficient phenotype including aberrant intestinal differentiation and that these mutants can be rescued by treatment with retinoic acid or injection of rdh1l mRNA.
  • Further, we have found that although APC mutants are deficient in rdh1l expression, they harbor increased expression of raldh2 suggesting the control of RA production by APC is via retinol dehydrogenase activity.
  • These results provide genetic evidence that retinoic acid is required for vertebrate gut development and that the tumor suppressor APC controls the production of RA in the gut by regulating the expression of the retinol dehydrogenase, rdh1l.
  • [MeSH-major] Adenomatous Polyposis Coli Protein / metabolism. Alcohol Oxidoreductases / biosynthesis. Alcohol Oxidoreductases / physiology. Intestines / enzymology. Tretinoin / metabolism. Zebrafish Proteins / biosynthesis. Zebrafish Proteins / physiology

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  • (PMID = 15967793.001).
  • [ISSN] 0021-9258
  • [Journal-full-title] The Journal of biological chemistry
  • [ISO-abbreviation] J. Biol. Chem.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / RNA, Messenger; 0 / Zebrafish Proteins; 5688UTC01R / Tretinoin; 63231-63-0 / RNA; EC 1.1.- / Alcohol Oxidoreductases; EC 1.1.1.105 / Rdh11 protein, zebrafish; EC 1.1.1.105 / retinol dehydrogenase
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84. Purro SA, Ciani L, Hoyos-Flight M, Stamatakou E, Siomou E, Salinas PC: Wnt regulates axon behavior through changes in microtubule growth directionality: a new role for adenomatous polyposis coli. J Neurosci; 2008 Aug 20;28(34):8644-54
Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Wnt regulates axon behavior through changes in microtubule growth directionality: a new role for adenomatous polyposis coli.
  • In particular, how these signaling molecules regulate the growth and directionality of microtubules is not well understood.
  • These changes in axonal behavior are associated with changes in the organization of microtubules.
  • Time-lapse imaging of EB3-GFP (green fluorescent protein)-labeled microtubule plus-ends demonstrates that Wnt3a regulates microtubule directionality, resulting in microtubule looping, growth cone pausing, and remodeling.
  • Wnt signaling directly affects the microtubule cytoskeleton by unexpectedly inducing adenomatous polyposis coli (APC) loss from microtubule plus-ends.
  • Consistently, short hairpin RNA knockdown of APC mimics Wnt3a function.
  • Together, our findings define APC as a key Wnt signaling target in the regulation of microtubule growth direction.

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  • (PMID = 18716223.001).
  • [ISSN] 1529-2401
  • [Journal-full-title] The Journal of neuroscience : the official journal of the Society for Neuroscience
  • [ISO-abbreviation] J. Neurosci.
  • [Language] ENG
  • [Grant] United Kingdom / Wellcome Trust / / 074372; United Kingdom / Wellcome Trust / / 078764; United Kingdom / Biotechnology and Biological Sciences Research Council / / BBE0160061; United Kingdom / Wellcome Trust / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adaptor Proteins, Signal Transducing; 0 / Adenomatous Polyposis Coli Protein; 0 / Phosphoproteins; 0 / Protein Isoforms; 0 / Wnt Proteins; 0 / Wnt3 Protein; 0 / Wnt3A Protein; 0 / Wnt3a protein, mouse; 0 / beta Catenin; 0 / dishevelled proteins
  • [Other-IDs] NLM/ PMC2832753; NLM/ UKMS28870
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85. Kita K, Wittmann T, Näthke IS, Waterman-Storer CM: Adenomatous polyposis coli on microtubule plus ends in cell extensions can promote microtubule net growth with or without EB1. Mol Biol Cell; 2006 May;17(5):2331-45
Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Adenomatous polyposis coli on microtubule plus ends in cell extensions can promote microtubule net growth with or without EB1.
  • In interphase cells, the adenomatous polyposis coli (APC) protein accumulates on a small subset of microtubules (MTs) in cell protrusions, suggesting that APC may regulate the dynamics of these MTs.
  • We comicroinjected a nonperturbing fluorescently labeled monoclonal antibody and labeled tubulin to simultaneously visualize dynamics of endogenous APC and MTs in living cells.
  • MTs decorated with APC spent more time growing and had a decreased catastrophe frequency compared with non-APC-decorated MTs.
  • Endogenous APC associated briefly with shortening MTs.
  • To determine the relationship between APC and its binding partner EB1, we monitored EB1-green fluorescent protein and endogenous APC concomitantly in living cells.
  • Only a small fraction of EB1 colocalized with APC at any one time.
  • APC-deficient cells and EB1 small interfering RNA showed that EB1 and APC localized at MT ends independently.
  • Depletion of EB1 did not change the growth-stabilizing effects of APC on MT plus ends.
  • In addition, APC remained bound to MTs stabilized with low nocodazole, whereas EB1 did not.
  • Thus, we demonstrate that the association of endogenous APC with MT ends correlates directly with their increased growth stability, that this can occur independently of its association with EB1, and that APC and EB1 can associate with MT plus ends by distinct mechanisms.

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  • (PMID = 16525027.001).
  • [ISSN] 1059-1524
  • [Journal-full-title] Molecular biology of the cell
  • [ISO-abbreviation] Mol. Biol. Cell
  • [Language] ENG
  • [Grant] United States / NIGMS NIH HHS / GM / R01 GM061804; United States / NIGMS NIH HHS / GM / GM-61804
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / Antibodies, Monoclonal; 0 / Microtubule-Associated Proteins
  • [Other-IDs] NLM/ PMC1446093
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86. Gerner EW, Ignatenko NA, Lance P, Hurley LH: A comprehensive strategy to combat colon cancer targeting the adenomatous polyposis coli tumor suppressor gene. Ann N Y Acad Sci; 2005 Nov;1059:97-105
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  • [Title] A comprehensive strategy to combat colon cancer targeting the adenomatous polyposis coli tumor suppressor gene.
  • Somatic cells in the majority of colorectal polyps and cancers contain mutations/deletions in the adenomatous polyposis coli (APC) tumor suppressor gene.
  • APC is involved in normal intestinal development and acts to influence a variety of cellular processes.
  • Loss of APC function leads to intestinal neoplasia in both mice and humans.
  • APC influences expression of specific genes, including the c-Myc oncogene, which functions as a transcriptional activator.
  • Loss of APC function leads to alterations in c-Myc-regulated genes including ornithine decarboxylase (ODC), the first enzyme in polyamine synthesis.
  • A single nucleotide polymorphism (SNP) in the ODC promoter affecting c-Myc-dependent expression has been associated with risk of colorectal and other cancers.
  • Pharmaceuticals that target structural features of the c-Myc promoter, and suppress expression of c-Myc and other genes regulated by similar promoter elements, are being developed as potential colorectal cancer chemotherapies.
  • APC and APC-dependent genes, such as c-Myc and ODC, may be useful as genetic markers of risk and as targets for chemoprevention and therapy for colorectal cancer.
  • [MeSH-major] Adenomatous Polyposis Coli Protein / physiology. Colonic Neoplasms / drug therapy. Gene Expression Regulation, Neoplastic
  • [MeSH-minor] Antineoplastic Agents / pharmacology. Aspirin / pharmacology. Base Sequence. Eflornithine / pharmacology. Humans. Models, Biological. Molecular Sequence Data. Neoplasms / metabolism. Polymorphism, Single Nucleotide. Proto-Oncogene Proteins c-myc / metabolism

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  • (PMID = 16382048.001).
  • [ISSN] 0077-8923
  • [Journal-full-title] Annals of the New York Academy of Sciences
  • [ISO-abbreviation] Ann. N. Y. Acad. Sci.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / Antineoplastic Agents; 0 / Proto-Oncogene Proteins c-myc; R16CO5Y76E / Aspirin; ZQN1G5V6SR / Eflornithine
  • [Number-of-references] 29
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87. Harris ES, Nelson WJ: Adenomatous polyposis coli regulates endothelial cell migration independent of roles in beta-catenin signaling and cell-cell adhesion. Mol Biol Cell; 2010 Aug 1;21(15):2611-23
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  • [Title] Adenomatous polyposis coli regulates endothelial cell migration independent of roles in beta-catenin signaling and cell-cell adhesion.
  • Adenomatous polyposis coli (APC), a tumor suppressor commonly mutated in cancer, is a cytoskeletal organizer for cell migration and a scaffold for GSK3 beta/CKI-mediated phosphorylation and degradation of the Wnt effector beta-catenin.
  • It remains unclear whether these different APC functions are coupled, or independently regulated and localized.
  • In primary endothelial cells, we show that GSK3 beta/CKI-phosphorylated APC localizes to microtubule-dependent clusters at the tips of membrane extensions.
  • Loss of GSK3 beta/CKI-phosphorylated APC from these clusters correlates with a decrease in cell migration.
  • GSK3 beta/CKI-phosphorylated APC and beta-catenin at clusters is degraded rapidly by the proteasome, but inhibition of GSK3 beta/CKI does not increase beta-catenin-mediated transcription.
  • GSK3 beta/CKI-phosphorylated and -nonphosphorylated APC also localize along adherens junctions, which requires actin and cell-cell adhesion.
  • Significantly, inhibition of cell-cell adhesion results in loss of lateral membrane APC and a concomitant increase in GSK3 beta/CKI-phosphorylated APC in clusters.
  • These results uncouple different APC functions and show that GSK3 beta/CKI phosphorylation regulates APC clusters and cell migration independently of cell-cell adhesion and beta-catenin transcriptional activity.

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  • (PMID = 20519433.001).
  • [ISSN] 1939-4586
  • [Journal-full-title] Molecular biology of the cell
  • [ISO-abbreviation] Mol. Biol. Cell
  • [Language] ENG
  • [Grant] United States / NIGMS NIH HHS / GM / R01 GM035527; United States / NIGMS NIH HHS / GM / R37 GM035527; United States / NIGMS NIH HHS / GM / GM035527
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / TCF Transcription Factors; 0 / beta Catenin; EC 2.7.11.1 / Casein Kinase I; EC 2.7.11.1 / glycogen synthase kinase 3 beta; EC 2.7.11.26 / Glycogen Synthase Kinase 3
  • [Other-IDs] NLM/ PMC2912348
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88. Garrean S, Hering J, Saied A, Jani J, Espat NJ: Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome. Am Surg; 2008 Jan;74(1):79-83
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  • [Title] Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome.
  • Familial adenomatous polyposis (FAP) is a rare hereditary syndrome characterized by multiple colorectal polyps and early development of colorectal cancer.
  • Although FAP uniformly involves the large bowel, it may also produce lesions in the stomach and upper intestinal tract.
  • Fundic gland polyps are the most common gastric lesion in FAP.
  • In the general population, these polyps are considered benign and have no malignant potential.
  • However, in FAP patients, fundic gland polyps have been occasionally recognized as precursor lesions from which invasive cancer may develop.
  • Herein, we present a case of gastric adenocarcinoma arising from fundic gland polyps in an FAP patient.
  • We also review reported cases of gastric cancer in FAP and FAP variant patients in an effort to better understand the pathology, clinical course, and optimal screening and treatment strategies for this disease manifestation.
  • [MeSH-major] Adenocarcinoma / genetics. Adenocarcinoma / pathology. Adenomatous Polyposis Coli / pathology. Stomach Neoplasms / genetics. Stomach Neoplasms / pathology


89. Aoki K, Taketo MM: Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene. J Cell Sci; 2007 Oct 1;120(Pt 19):3327-35
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene.
  • The adenomatous polyposis coli (APC) gene is a key tumor suppressor gene.
  • Mutations in the gene have been found not only in most colon cancers but also in some other cancers, such as those of the liver.
  • The APC gene product is a 312 kDa protein that has multiple domains, through which it binds to various proteins, including beta-catenin, axin, CtBP, Asefs, IQGAP1, EB1 and microtubules.
  • Studies using mutant mice and cultured cells have demonstrated that APC suppresses canonical Wnt signalling, which is essential for tumorigenesis, development and homeostasis of a variety of cell types, such as epithelial and lymphoid cells.
  • Further studies have suggested that APC plays roles in several other fundamental cellular processes.
  • Deregulation of these processes caused by mutations in APC is implicated in the initiation and expansion of colon cancer.
  • [MeSH-major] Adenomatous Polyposis Coli Protein. Genes, Tumor Suppressor
  • [MeSH-minor] Actins / metabolism. Animals. Cell Adhesion / physiology. Chromosome Segregation. Colonic Neoplasms / genetics. Colonic Neoplasms / metabolism. Humans. Microtubules / metabolism. Protein Isoforms / genetics. Protein Isoforms / metabolism. Signal Transduction / physiology. Wnt Proteins / genetics. Wnt Proteins / metabolism

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  • (PMID = 17881494.001).
  • [ISSN] 0021-9533
  • [Journal-full-title] Journal of cell science
  • [ISO-abbreviation] J. Cell. Sci.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Actins; 0 / Adenomatous Polyposis Coli Protein; 0 / Protein Isoforms; 0 / Wnt Proteins
  • [Number-of-references] 109
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90. Almendingen K, Høstmark AT, Fausa O, Mosdøl A, Aabakken L, Vatn MH: Familial adenomatous polyposis patients have high levels of arachidonic acid and docosahexaenoic acid and low levels of linoleic acid and alpha-linolenic acid in serum phospholipids. Int J Cancer; 2007 Feb 1;120(3):632-7
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  • [Title] Familial adenomatous polyposis patients have high levels of arachidonic acid and docosahexaenoic acid and low levels of linoleic acid and alpha-linolenic acid in serum phospholipids.
  • Familial adenomatous polyposis (FAP) provides a model of APC inactivation as an early genetic event for the approximately 85% of colorectal cancers that develop from polyps.
  • Our aim was to describe the composition of fatty acids in serum phospholipids in 38 colectomized FAP patients as compared to 160 healthy subjects.
  • The levels (weight %) of linoleic and alpha-linolenic acid were higher among the reference subjects (difference: 3.96, 95% confidence interval (CI) = 2.87, 5.04, and difference: 0.06, 95% CI = 0.04, 0.08, respectively), and the levels of arachidonic and docosahexaenoic acid were lower (difference: -3.70, 95% CI = -4.35, -3.06, and difference: -5.26, 95% CI = -6.25, -4.28, respectively) as compared to the FAP patients (all p < or = 0.0001).
  • The abnormal fatty acid composition was not related to time since colectomy, intestinal reconstruction or history of colorectal cancer for any of the fatty acids assessed.
  • Compositional differences in the fatty acid profile of serum phospholipids have not been described before in FAP patients.
  • Further studies are needed to confirm these findings and assess clinical significances of a possible distorted fatty acid metabolism, including a potentially different dietary need of essential fatty acids.
  • The relevance of these findings for APC induced cancers remains unclear.
  • [MeSH-major] Adenomatous Polyposis Coli / blood. Arachidonic Acid / blood. Docosahexaenoic Acids / blood. Linoleic Acid / blood. Phospholipids / blood. alpha-Linolenic Acid / blood

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  • (PMID = 17096349.001).
  • [ISSN] 0020-7136
  • [Journal-full-title] International journal of cancer
  • [ISO-abbreviation] Int. J. Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Phospholipids; 0RBV727H71 / alpha-Linolenic Acid; 25167-62-8 / Docosahexaenoic Acids; 27YG812J1I / Arachidonic Acid; 9KJL21T0QJ / Linoleic Acid
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91. Shinmura K, Suzuki M, Yamada H, Tao H, Goto M, Kamo T, Nagura K, Kageyama S, Kato M, Ogawa S, Maekawa M, Takamochi K, Suzuki K, Nakamura T, Sugimura H: Characterization of adenocarcinoma of the lung in a familial adenomatous polyposis patient. Pathol Int; 2008 Nov;58(11):706-12
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  • [Title] Characterization of adenocarcinoma of the lung in a familial adenomatous polyposis patient.
  • The incidence of several extracolonic tumors, such as duodenal carcinoma, is higher in familial adenomatous polyposis (FAP) patients than in the general population, but there is little information about lung carcinoma in FAP.
  • A 43-year-old woman presented with a lung tumor 17 years after total colectomy for FAP.
  • Pathohistological analysis of the lung tumor demonstrated mixed adenocarcinoma consisting of a papillary adenocarcinoma component and a bronchioloalveolar carcinoma component.
  • Sequencing analysis indicated a germline APC mutation from TCA to TGA (stop) at codon 1110, but no pathogenic germline MYH mutations.
  • The other APC allele in the lung carcinoma was not inactivated by somatic mutations, promoter methylation, or chromosomal deletion.
  • The present results suggest that the chromosomal copy number alterations detected on SNP microarray were involved in the carcinogenesis of the adenocarcinoma of the lung in the present FAP patient.
  • [MeSH-major] Adenocarcinoma, Bronchiolo-Alveolar / pathology. Adenocarcinoma, Papillary / pathology. Adenomatous Polyposis Coli / pathology. Lung Neoplasms / pathology
  • [MeSH-minor] Adult. Colon / surgery. DNA Mutational Analysis. DNA, Neoplasm / analysis. Female. Gene Amplification. Gene Dosage. Genes, APC. Germ-Line Mutation. Humans. Oligonucleotide Array Sequence Analysis. Pedigree. Polymorphism, Single Nucleotide / genetics


92. Eisinger AL, Nadauld LD, Shelton DN, Prescott SM, Stafforini DM, Jones DA: Retinoic acid inhibits beta-catenin through suppression of Cox-2: a role for truncated adenomatous polyposis coli. J Biol Chem; 2007 Oct 5;282(40):29394-400
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  • [Title] Retinoic acid inhibits beta-catenin through suppression of Cox-2: a role for truncated adenomatous polyposis coli.
  • Mutations in adenomatous polyposis coli (APC) underlie the earliest stages of colorectal carcinogenesis.
  • Consequences of APC mutation include stabilization of beta-catenin, dysregulation of cyclooxygenase-2 (COX-2) expression, and loss of retinoic acid production, events with poorly defined interactions.
  • Here we showed that treatment of zebrafish expressing a truncated form of Apc with either retinoic acid or a selective COX-2 inhibitor decreased beta-catenin protein levels and downstream signaling events.
  • Interestingly, the destruction of beta-catenin in apc mutant embryos following Cox-2 inhibition required the presence of truncated Apc.
  • These findings support roles for retinoic acid and Cox-2 in regulating the stability of beta-catenin following Apc loss.
  • Furthermore, truncated Apc appears to retain the ability to target beta-catenin for destruction, but only in the absence of Cox-2 activity.
  • This novel function of truncated Apc may provide a molecular basis for the efficacy of COX-2 inhibitors in the treatment of colon cancer.
  • [MeSH-major] Adenomatous Polyposis Coli / metabolism. Cyclooxygenase 2 / metabolism. Gene Expression Regulation. Mutation. Tretinoin / pharmacology. beta Catenin / metabolism

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  • (PMID = 17673467.001).
  • [ISSN] 0021-9258
  • [Journal-full-title] The Journal of biological chemistry
  • [ISO-abbreviation] J. Biol. Chem.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / beta Catenin; 5688UTC01R / Tretinoin; 63231-63-0 / RNA; EC 1.14.99.1 / Cyclooxygenase 2; K7Q1JQR04M / Dinoprostone
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93. Yue HH, Diehl GE, Winoto A: Loss of TRAIL-R does not affect thymic or intestinal tumor development in p53 and adenomatous polyposis coli mutant mice. Cell Death Differ; 2005 Jan;12(1):94-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Loss of TRAIL-R does not affect thymic or intestinal tumor development in p53 and adenomatous polyposis coli mutant mice.
  • [MeSH-major] Adenomatous Polyposis Coli Protein / genetics. Intestinal Neoplasms / physiopathology. Receptors, Tumor Necrosis Factor / physiology. Thymus Neoplasms / physiopathology. Tumor Suppressor Protein p53 / genetics
  • [MeSH-minor] Adenomatous Polyposis Coli / genetics. Adenomatous Polyposis Coli / pathology. Adenomatous Polyposis Coli / physiopathology. Animals. Gene Expression / genetics. Heterozygote. Mice. Mice, Inbred C57BL. Mice, Knockout. Mutation. Receptors, TNF-Related Apoptosis-Inducing Ligand. Splenic Neoplasms / genetics. Splenic Neoplasms / pathology. Splenic Neoplasms / physiopathology

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  • (PMID = 15514675.001).
  • [ISSN] 1350-9047
  • [Journal-full-title] Cell death and differentiation
  • [ISO-abbreviation] Cell Death Differ.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA92000
  • [Publication-type] Letter; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / Receptors, TNF-Related Apoptosis-Inducing Ligand; 0 / Receptors, Tumor Necrosis Factor; 0 / Tnfrsf10b protein, mouse; 0 / Tumor Suppressor Protein p53
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94. Newton IP, Kenneth NS, Appleton PL, Näthke I, Rocha S: Adenomatous polyposis coli and hypoxia-inducible factor-1{alpha} have an antagonistic connection. Mol Biol Cell; 2010 Nov 1;21(21):3630-8
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  • [Title] Adenomatous polyposis coli and hypoxia-inducible factor-1{alpha} have an antagonistic connection.
  • The tumor suppressor adenomatous polyposis coli (APC) is mutated in the majority of colorectal cancers and is best known for its role as a scaffold in a Wnt-regulated protein complex that determines the availability of β-catenin.
  • Here, we demonstrate a novel link between APC and hypoxia and show that APC and HIF-1α antagonize each other.
  • Hypoxia results in reduced levels of APC mRNA and protein via a HIF-1α-dependent mechanism.
  • HIF-1α represses the APC gene via a functional hypoxia-responsive element on the APC promoter.
  • In contrast, APC-mediated repression of HIF-1α requires wild-type APC, low levels of β-catenin, and nuclear factor-κB activity.
  • These results reveal down-regulation of APC as a new mechanism that contributes to the survival advantage induced by hypoxia and also show that loss of APC mutations produces a survival advantage by mimicking hypoxic conditions.

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  • (PMID = 20844082.001).
  • [ISSN] 1939-4586
  • [Journal-full-title] Molecular biology of the cell
  • [ISO-abbreviation] Mol. Biol. Cell
  • [Language] ENG
  • [Grant] United Kingdom / Wellcome Trust / / 083524; United Kingdom / Medical Research Council / / G0601098; United Kingdom / Medical Research Council / / G0601098(79787); United Kingdom / Cancer Research UK / / A11243; United Kingdom / Medical Research Council / / ; United Kingdom / Cancer Research UK / / 11243; United Kingdom / Cancer Research UK / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / HIF1A protein, human; 0 / Hypoxia-Inducible Factor 1, alpha Subunit; 0 / NF-kappa B; 0 / beta Catenin
  • [Other-IDs] NLM/ PMC2965681
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95. Wolfsen HC: Polypoid Barrett's high-grade dysplasia in a patient with familial adenomatous polyposis: a unique association. Endoscopy; 2005 Mar;37(3):280
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  • [Title] Polypoid Barrett's high-grade dysplasia in a patient with familial adenomatous polyposis: a unique association.
  • [MeSH-major] Adenomatous Polyposis Coli / complications. Barrett Esophagus / complications. Esophageal Neoplasms / complications. Polyps / complications


96. MacLean ME, McMillan S, Chong D, MacKenzie I, Mitchell KG, McCourtney JS: Ileostomy carcinomas: a review: the latent risk after colectomy for ulcerative colitis and familial adenomatous polyposis. Colorectal Dis; 2006 Oct;8(8):725-6
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  • [Title] Ileostomy carcinomas: a review: the latent risk after colectomy for ulcerative colitis and familial adenomatous polyposis.


97. Pérez-Segura P, Siso I, Luque R, Olivera H, Díaz S, Mayol J, Bueno C, Puente J, Díaz-Rubio E: Iatrogenic intestinal obstruction: a rare complication of capsule endoscopy in a patient with familial adenomatous polyposis. Endoscopy; 2007 Feb;39 Suppl 1:E298-9
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  • [Title] Iatrogenic intestinal obstruction: a rare complication of capsule endoscopy in a patient with familial adenomatous polyposis.
  • [MeSH-major] Adenomatous Polyposis Coli / diagnosis. Capsule Endoscopy / adverse effects. Colonic Pouches. Foreign Bodies / diagnosis. Iatrogenic Disease. Intestinal Pseudo-Obstruction / etiology. Postoperative Complications / etiology


98. Duncan RE, Gillam L, Savulescu J, Williamson R, Rogers JG, Delatycki MB: "You're one of us now": young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP). Am J Med Genet C Semin Med Genet; 2008 Feb 15;148C(1):47-55
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] "You're one of us now": young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP).
  • We conducted in-depth interviews with 18 young people who had undergone testing, to explore the range of harms and benefits that they perceived were associated with their tests.
  • Participants were eight individuals who were tested for Huntington disease (two gene-positive, six gene-negative) and ten who were tested for familial adenomatous polyposis (five gene-positive, five gene-negative).
  • [MeSH-major] Adenomatous Polyposis Coli / genetics. Genetic Predisposition to Disease. Genetic Testing / ethics. Genetic Testing / psychology. Huntington Disease / genetics


99. Hosoya K, Yamashita S, Ando T, Nakajima T, Itoh F, Ushijima T: Adenomatous polyposis coli 1A is likely to be methylated as a passenger in human gastric carcinogenesis. Cancer Lett; 2009 Nov 28;285(2):182-9
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  • [Title] Adenomatous polyposis coli 1A is likely to be methylated as a passenger in human gastric carcinogenesis.
  • In gastric cancers, promoter 1A of the adenomatous polyposis coli (APC) gene is frequently methylated, and is often discussed as a driver.
  • However, the actual role of 1A methylation is unclear because the same APC protein is coded by two transcripts from two promoters, 1A and 1B, and their relative expression levels in gastric mucosae have not been quantified.
  • We then confirmed that, among nine gastric cancer cell lines, 1A methylation, if present, could repress 1A transcription while 1B was expressed and not methylated.
  • These findings strongly indicated that methylation of APC promoter 1A is a passenger, and suggested that marked down-regulation of 1B expression could be related to formation of a field predisposed to gastric cancers.
  • [MeSH-major] Adenomatous Polyposis Coli Protein / genetics. DNA Methylation / genetics. Gene Expression Regulation, Neoplastic. Genes, APC. Stomach Neoplasms / genetics
  • [MeSH-minor] CpG Islands / genetics. Down-Regulation. Female. Gene Expression. Gene Silencing. Humans. Male. Middle Aged. Promoter Regions, Genetic / genetics. Protein Isoforms / genetics. Reverse Transcriptase Polymerase Chain Reaction

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  • (PMID = 19527921.001).
  • [ISSN] 1872-7980
  • [Journal-full-title] Cancer letters
  • [ISO-abbreviation] Cancer Lett.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Ireland
  • [Chemical-registry-number] 0 / Adenomatous Polyposis Coli Protein; 0 / Protein Isoforms
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100. Holmes RL, Ambasht SK, Kelley PS: Index case of familial adenomatous polyposis revealed by congenital hypertrophy of the retinal pigment epithelium. Ann Intern Med; 2005 Oct 18;143(8):618-9
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  • [Title] Index case of familial adenomatous polyposis revealed by congenital hypertrophy of the retinal pigment epithelium.
  • [MeSH-major] Adenomatous Polyposis Coli / pathology. Pigment Epithelium of Eye / pathology
  • [MeSH-minor] Adult. Female. Genes, APC. Germ-Line Mutation. Humans. Hypertrophy / congenital. Hypertrophy / diagnosis

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  • (PMID = 16230738.001).
  • [ISSN] 1539-3704
  • [Journal-full-title] Annals of internal medicine
  • [ISO-abbreviation] Ann. Intern. Med.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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