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1. Garcia-Closas M, Chanock S: Genetic susceptibility loci for breast cancer by estrogen receptor status. Clin Cancer Res; 2008 Dec 15;14(24):8000-9
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  • Breast cancer is a heterogeneous disease, and risk factors could be differentially associated with the development of distinct tumor subtypes that manifest different biological behavior and progression.
  • In support of this view, there is growing evidence that known breast cancer risk factors vary by hormone receptor status and perhaps other pathologic characteristics of disease.
  • Recent work from large consortial studies has led to the discovery of novel breast cancer susceptibility loci in genic (CASP8, FGFR2, TNRC9, MAP3K1, LSP1) and nongenic regions (8q24, 2q35, 5p12) of the genome, and to the finding of substantial heterogeneity by tumor characteristics.
  • In particular, susceptibility loci in FGFR2, TNRC9, 8q24, 2q35, and 5p12 have stronger associations for estrogen receptor-positive (ER+) disease than estrogen receptor-negative (ER -) disease.
  • These findings suggest that common genetic variants can influence the pathologic subtype of breast cancer, and provide further support for the hypothesis that ER+ and ER(-) disease result from different etiologic pathways.
  • Current studies had limited power to detect susceptibility loci for less common tumor subtypes, such as ER(-) disease including triple-negative and basal-like tumors.
  • Ongoing work targeting uncommon subtypes is likely to identify additional tumor-specific susceptibility loci in the near future.
  • [MeSH-major] Breast Neoplasms / genetics. Genetic Predisposition to Disease. Receptors, Estrogen / analysis

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  • (PMID = 19088016.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Grant] United States / Intramural NIH HHS / / Z01 CP010126-12; United States / Intramural NIH HHS / / Z99 CA999999
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Estrogen; 0 / Receptors, Progesterone; 0 / TNRC9 protein, human
  • [Number-of-references] 107
  • [Other-IDs] NLM/ NIHMS78615; NLM/ PMC2668137
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2. Caldeira JR, Prando EC, Quevedo FC, Neto FA, Rainho CA, Rogatto SR: CDH1 promoter hypermethylation and E-cadherin protein expression in infiltrating breast cancer. BMC Cancer; 2006;6:48
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  • LOH at this site is thought to lead to loss of function of this tumor suppressor gene and was correlated with decreased disease-free survival, poor prognosis, and metastasis.
  • Differential CpG island methylation in the promoter region of the CDH1 gene might be an alternative way for the loss of expression and function of E-cadherin, leading to loss of tissue integrity, an essential step in tumor progression.
  • However, this finding was not considered significant after Bonferroni correction of p-value.
  • [MeSH-major] Breast Neoplasms / genetics. Cadherins / genetics. Carcinoma, Ductal, Breast / genetics. Carcinoma, Lobular / genetics. Genes, Tumor Suppressor. Promoter Regions, Genetic / genetics

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  • (PMID = 16512896.001).
  • [ISSN] 1471-2407
  • [Journal-full-title] BMC cancer
  • [ISO-abbreviation] BMC Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Cadherins
  • [Other-IDs] NLM/ PMC1523210
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3. Ranaldi R, Morichetti D, Goteri G, Martino A: Immature teratoma of the mediastinum arising in ectopic thyroid tissue: a case report. Anal Quant Cytol Histol; 2009 Aug;31(4):233-8
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  • The histologic examination revealed the presence of a discontinuous rim of compressed thyroid follicles on the outer aspect of the tumor capsule.
  • This finding is consistent with the origin of the teratoma in ectopic thyroid tissue, and it has not been previously described in the literature.
  • The patient was free of disease after 22 months, in accordance with the benign behavior of immature teratoma in infancy.
  • CONCLUSION: Ectopic thyroid tissue can undergo the same pathologic changes as the thyroid gland, including the rare occurrence of teratoma.

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  • (PMID = 19736871.001).
  • [ISSN] 0884-6812
  • [Journal-full-title] Analytical and quantitative cytology and histology
  • [ISO-abbreviation] Anal. Quant. Cytol. Histol.
  • [Language] ENG
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Nuclear Proteins; 0 / Transcription Factors; 0 / thyroid nuclear factor 1; 9010-34-8 / Thyroglobulin
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