Recurrent Mutations in BRCA1 , BRCA2 , RAD51C , PALB2 and CHEK2 in Polish Patients with Ovarian Cancer

The aim of the study was to analyze the frequency and magnitude of association of 21 recurrent founder germline mutations in , , , , and genes with ovarian cancer risk among unselected patients in Poland. We genotyped 21 recurrent germline mutations in (9 mutations), (4 mutations), (3 mutations), (2 mutations), and (3 mutations) among 2270 Polish ovarian cancer patients and 1743 healthy controls, and assessed the odds ratios (OR) for developing ovarian cancer for each gene. Mutations were detected in 369 out of 2095 (17.6%) unselected ovarian cancer cases and 117 out of 1743 (6.7%) unaffected controls. The ovarian cancer risk was associated with mutations in (OR = 40.79, 95% CI: 18.67-114.78; = 0.29 × 10 ), in (OR = 25.98; 95% CI: 1.55-434.8; = 0.001), in (OR = 6.28; 95% CI 1.77-39.9; = 0.02), and in (OR 3.34; 95% CI: 1.06-14.68; = 0.06). There was no association found for We found that pathogenic mutations in , , or are responsible for 12.5% of unselected cases of ovarian cancer. We recommend that all women with ovarian cancer in Poland and first-degree female relatives should be tested for this panel of 18 mutations.