MUTATION ANALYSIS OF BRCA1 AND BRCA2 IN A MALE BREAST-CANCER POPULATION

A population-based series of 54 male breast cancer cases from Southern California were analyzed for germ-line mutations in the inherited bre ast/ovarian cancer genes, BRCA1 and BRCA2. Nine (17%) of the patients had a family history of breast and/or ovarian cancer in at least one f irst-degree relative. A further seven (13%) of the patients reported b reast/ovarian cancer in at least one second-degree relative and in no first-degree relatives. No germ-line BRCA1 mutations were found. Two m ale breast cancer patients (4% of the total) were found to carry novel truncating mutations in the BRCA2 gene. Only one of the two male brea st cancer patients carrying a BRCA2 mutation had a family history of c ancer, with one case of ovarian cancer in a first-degree relative. The remaining eight cases (89%) of male breast cancer with a family histo ry of breast/ovarian cancer in first-degree relatives remain unaccount ed for by mutations in either the BRCA1 gene or the BRCA2 gene.