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Background: The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC)\udin the United Kingdom is not known, and the importance of these genes in the increased risk of female\udbreast cancer associated with a family history of breast cancer in a male first-degree relative is unclear.\udMethods: We have carried out a population-based study of 94 MBC cases collected in the UK. We\udscreened genomic DNA for mutations in BRCA1 and BRCA2 and used family history data from these\udcases to calculate the risk of breast cancer to female relatives of MBC cases. We also estimated the\udcontribution of BRCA1 and BRCA2 to this risk.\udResults: Nineteen cases (20%) reported a first-degree relative with breast cancer, of whom seven also\udhad an affected second-degree relative. The breast cancer risk in female first-degree relatives was 2.4\udtimes (95% confidence interval [CI] = 1.4–4.0) the risk in the general population. No BRCA1 mutation\udcarriers were identified and five cases were found to carry a mutation in BRCA2. Allowing for a\udmutation detection sensitivity frequency of 70%, the carrier frequency for BRCA2 mutations was 8%\ud(95% CI = 3–19). All the mutation carriers had a family history of breast, ovarian, prostate or\udpancreatic cancer. However, BRCA2 accounted for only 15% of the excess familial risk of breast\udcancer in female first-degree relatives.\udConclusion: These data suggest that other genes that confer an increased risk for both female and\udmale breast cancer have yet to be found

BRCA1 and BRCA2 mutations in a population-based study of male breast cancer