A case-control study involving more than 8,200 individuals confirmed that RAD51C and RAD51D are moderate ovarian cancer susceptibility genes. Thus, they might be useful in routine clinical genetic testing.

Investigators sequenced and analyzed the three RAD51 genes in 3,429 patients with ovarian cancer, 2,772 controls, and 2000 unaffected women who were BRCA1/BRCA2 negative. All subjects were part of the Familial Ovarian Cancer Screening Study.

Researchers identified predicted deleterious mutations in 28 (0.82%) ovarian cancer cases, vs 3 (0.11%) in controls. In those with ovarian cancer, mutations were most frequent in RAD51C (0.41%) and RAD51D (0.35%) cases than in RAD51B (0.06%) cases.

Overall, the authors identified 13 RAD51 mutations (0.65%) in unaffected participants. This was significantly greater than what was seen in controls. Further, RAD51 mutation carriers were more likely than noncarriers to have a family history of ovarian cancer.

Citation: Song H, Dicks E, Ramus S, et al. Contribution of Germline Mutations in theRAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. J Clin Oncol. 2015; August 10,2015. doi:10.1200/JCO.2015.61.2408.