Novel BRCA2 mutation in a Polish family with hamartoma and two male breast cancers

reast cancer is a rare disease in men and represents only approximately 1% of all breast cancer cases. 5] Most families have a single case of male breast cancer and familial clusters of male breast cancer cases are unusual. Recently, BRCA2 mutation analyses in male breast cancer were performed in the Polish population and five novel mutations were detected; however, aggregation of male breast cancer cases was observed in only one family from north eastern Poland. 11 12 Here, we report a novel BRCA2 mutation in a Polish family with two male breast cancer cases in a father and son and a first case of BRCA2 mutation with loss of heterozygosity in a patient with lung hamartoma. 1 of 3 www.jmedgenet.com