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Nat Genet ; 42(10): 880-4, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20852633

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. 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.


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