Common variants at 19p13 are associated with susceptibility to ovarian cancer.

doi:10.1038/NG.666

Open AccessJournal ArticleDOI

Common variants at 19p13 are associated with susceptibility to ovarian cancer.

Kelly L. Bolton, +118 more

- 01 Oct 2010 -

Nature Genetics

- Vol. 42, Iss: 10, pp 880-884

TLDR

In this article, a three-phase genome-wide association study of EOC survival in 8,951 individuals with EOC (cases) with available survival time data and a parallel association analysis of susceptibility showed evidence of association with survival.

Abstract:

Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological malignancy in the developed world, accounting for 4% of the deaths from cancer in women(1) We performed a three-phase genome-wide association study of EOC survival in 8,951 individuals with EOC (cases) with available survival time data and a parallel association analysis of EOC susceptibility Two SNPs at 19p1311, rs8170 and rs2363956, showed evidence of association with survival (overall P = 5 x 10(-4) and P = 6 x 10(-4), respectively), but they did not replicate in phase 3 However, the same two SNPs demonstrated genome-wide significance for risk of serous EOC (P = 3 x 10(-9) and P = 4 x 10(-11), respectively) Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development

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Rethinking ovarian cancer: recommendations for improving outcomes

Sebastian Vaughan, +25 more

- 01 Oct 2011 -

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TL;DR: Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer.

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Nature Genetics

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Ian Tomlinson, +32 more

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Nature Genetics

TL;DR: These data show that common, low-penetrance susceptibility alleles predispose to colorectal neoplasia, and suggest that susceptibility to CRC is mediated through development of adenomas.

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