Resumen
In Poland, ovarian cancer is the fourth leading cause of death from cancer among women. Several founder mutations in the BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 genes are associated with breast and ovarian cancer. The aim of the study was to analyze the frequency and magnitude of association of 21 recurrent founder germline mutations in the above genes with ovarian cancer risk among unselected patients in Poland. The ovarian cancer risk was associated with mutations in BRCA1, BRCA2, RAD51C, and PALB2 but not in the CHEK2 gene. Excluding CHEK2, pathogenic mutations in the other 18 alleles were present in 12.5% of cases and 0.6% of healthy controls. A mutation was found in 25.8% of familial cases vs. 9.9% of non-familial cases. We recommend that in Poland all women with ovarian cancer and first-degree female relatives should be tested for the panel of 18 founder mutations in BRCA1, BRCA2, PALB2, and RAD51C.