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Background  Causative variants in  BRCA1  and  BRCA2  are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the  BRCA1  are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of  BRCA1/2  mutations between ovarian cancer patients have not yet been studied in the region of South-East Poland.    Methods  We examined 158 consecutive unselected cases of ovarian cancer patients from the region of Podkarpacie. We studied 13 Polish causative founder variants in  BRCA1  (c.5266dupC, c.4035delA, c.5251C > T, c.181 T > G, c.676delT, c.68_69delAG, c.3700_3704delGTAAA, c.1687C > T, c.3756_3759delGTCT) and in  BRCA2  (c.658_659delGT, c.7910_7914delCCTTT, c.3847_3848delGT, c.5946delT).    Results  A  BRCA1  causative founder variants were detected in 10 of the 158 (6.3%) ovarian cancer cases.  BRCA2  causative founder variants were not observed. The c.5266dupC mutation was detected in 6 patients, c.181 T > G mutation in 3 patients and the c.676delT mutation in 1 patient. The median age of diagnosis of the 10 hereditary ovarian cancers was 55.5 years of age.    Conclusions  The frequency of 13 causative founder variants in Podkarpacie was lower than in other regions of Poland. Testing of three  BRCA1  mutations (c.5266dupC, c.181 T > G, c.676delT) should be considered a sensitive test panel.

Frequency of BRCA1 and BRCA2 causative founder variants in ovarian cancer patients in South-East Poland