BRCA gene mutations in Slovenian male breast cancer patients

Male breast cancer (MBC) is a rare disease, comprising less than 1% of breast cancer patients in Slovenia. Some inherited cases are due to the mutations of BRCA1 or BRCA2 genes. The purpose of this population-based study is to determine the prevalence of BRCA gene mutations in MBC patients in Slovenia. Records on all 142 male patients, treated for breast cancer between 1975 and 2007at the Institute of Oncology Ljubljana were retrieved. At the time of our study, 43 patients were alive, and they were proposed to take part in this study. Of them, 29 agreed to follow a genetic counseling session and 26 patients agreed to provide a blood sample for genetic testing. The BRCA1 and BRCA2 genes from the MBC patients were screened for 4 highly recurrent mutations in the Slovenian population. When an additional breast cancer case or an ovarian cancer was present in the family, a more extended analysis was performed. No BRCA1 mutations were found. A BRCA2 gene mutation was identified in four MBC patients. Three of them carried the Slovenian founder mutation IVS16–2A>G. All four mutations were confined to the patients with a family history of breast and other cancers. The median age of the patients with a BRCA2 gene mutation was 60 years, not significantly different from those without a mutation. The BRCA2 mutations were diagnosed in 15% of the Slovenian MBC patients.