Management of male BRCA mutation carriers

Abstract

Male breast cancer (MBC) accounts for <1% of all breast cancer diagnosed annually in the USA. Approximately 20% of affected men have a positive family history of breast cancer and 5-10% are associated with germline cancer susceptibility gene mutations. Unfortunately, with such small numbers, the research opportunities and data available on the biology, diagnosis, and management of male breast cancer have been limited. The management of male breast cancer, therefore, has been extrapolated from the available evidence derived in studies of female breast cancer, in particular, postmenopausal, estrogen receptor-positive (ER+) tumors. This strategy appears to be associated with similar overall outcomes when MBC patients are matched to female breast cancer (FBC) patients. However, increasing evidence has suggested that there are significant differences in the biology of MBC compared to the disease in females. These differences may eventually translate into alternative management options for MBC patients. Genetic susceptibility genes, in particular BRCA2, play a role in a subset of MBCs and offer an attractive springboard for a variety of biological studies that hold the promise of providing insight into this rare disease.