A Case of Male Breast Cancer with a BRCA Gene Mutation

Background Male breast cancer (MBC) is an uncommon malignancy with an incidence that accounts for about 1% of all breast cancer cases. It commonly presents as a locally advanced tumor that has already spread to the regional nodal basin. Similar to female breast cancers, MBC gene expression profiling and tumor studies help to detect molecular subtypes of tumors that correlate with clinical outcome and mortality rates.

Case Report We report a relatively uncommon case of a 64-year-old male with a BRCA1+ gene mutation that is also found to be HER2+ on receptor analysis. Initial diagnostic studies with mammography and ultrasound revealed a left-sided hypoechoic mass measuring 2.3 cm, located at the 11 o'clock position adjacent to the nipple-areolar complex. Whole body positron emission tomography–computed tomography scan revealed a hypermetabolic retroareolar left breast mass and enlarged, hypermetabolic left axillary lymph nodes. Final pathology revealed an infiltrating ductal carcinoma with a Nottingham histologic score of 3 (mitotic count score, 3; nuclear pleomorphism score, 3). Of the 19 lymph nodes examined, 15 had evidence of macrometastatic disease.

Conclusion This report highlights a novel case of MBC with a rare genotypic presentation. A need exists to further explore this disease process because the literature is scant with information regarding the long-term treatment and outcomes of MBC, especially in the genotypic form presented here. Subsequent studies in the long-term outcomes of various MBC cases will need to be pursued to better understand the optimal screening and treatment strategies for this disease.