BRCA1/2 status and clinicopathologic characteristics of patients with double primary breast and ovarian cancer

The aim of the study was to analyse the results of BRCA1/2 testing in a group of patients with double primary breast and ovarian cancer (DPBOC) in Slovenia. Additionally, the family history and the clinicopathologic characteristics of BRCA1/2 mutation positive and negative patients with DPBOC were analysed, comparing them to a group of untested patients with DPBOC. For these groups of patients, survival analysis was also performed. From the 52 patients who were invited to genetic counselling and testing, 20 responded positively (38% compliance). BRCA1/2 mutations were found in 60% (12/20): 45% BRCA1 and 15% BRCA2 (9 and 3 patients, respectively). There was significantly higher grade of ovarian cancer and significantly higher rate of multiple primary breast cancer in BRCA1/2 positive group. Additionaly, there was a trend towards higher rate of first-degree family history of breast cancer, a trend towards higher stage of ovarian cancer, and a trend towards breast cancer being the first cancer in BRCA1/2 positive group. According to survival analysis, the tested group was not a representative sample of the larger untested group (of 51 patients), so we estimate that the rate of BRCA1/2 mutations in DPBOC patients is probably less than 60%.