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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.

Original publication

DOI

10.1038/ng.666

Type

Journal article

Journal

Nat Genet

Publication Date

10/2010

Volume

42

Pages

880 - 884

Keywords

Adaptor Proteins, Signal Transducing, Adenocarcinoma, Clear Cell, Adenocarcinoma, Mucinous, Biomarkers, Tumor, Case-Control Studies, Chromosomes, Human, Pair 19, Cystadenocarcinoma, Serous, Endometrial Neoplasms, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Genotype, Humans, Middle Aged, Oligonucleotide Array Sequence Analysis, Ovarian Neoplasms, Ovary, Polymorphism, Single Nucleotide, Tumor Cells, Cultured