Male breast cancer is a rather uncommon and understudied disease. It accounts for less than 1% of all breast cancers, but in recent decades its frequency has been on the rise. Clinical trials of breast cancer have traditionally excluded men. Due to the lack of large-scale prospective studies, most published data come from single-institution, small-cohort studies, and treatment recommendations are based on the extrapolation of data from clinical trials enrolling only women. Although to some extent etiology, diagnosis, and treatment characteristics can be similar, male breast cancer exhibits some distinct features. Men tend to be diagnosed with breast cancer at an older age and at a more advanced stage. A better understanding of the biologic features, clinically relevant differences, effective treatments, and outcomes of male breast cancer is crucial to appropriately manage these patients. We present a male breast cancer case with a germline BRCA2 mutation and discuss the epidemiologic, pathologic, and clinical characteristics along with treatment and follow-up recommendations in view of our recent understanding of this disease.
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