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COMMON VARIANTS AT 19p13 ARE ASSOCIATED WITH SUSCEPTIBILITY TO OVARIAN CANCER
A case/control study of epithelial ovarian cancer involving 9,000 patients (cases) was used to identify variants associated with increased survival and with risk for cancer. Two variants at independent regions were associated with survival, but the result could not be replicated. However, the variants were still found to be associated with ovarian cancer, and we found that the associated genes are known to interact with BRCA1 and ovarian cancer development, respectively.
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. 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 19p13.11, rs8170 and rs2363956, showed evidence of association with survival (overall P = 5 × 10⁻⁴ and P = 6 × 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 × 10⁻⁹ and P = 4 × 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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