Infiltrating Ductal Breast Carcinoma in a Male Patient With Associated BARD1 Mutation

TL;DR

A rare case of male breast cancer with a BARD1 gene mutation is presented, highlighting the importance of genetic testing in diagnosis and treatment.

Contribution

This case report adds to the limited literature on male breast cancer by identifying a BARD1 mutation in a patient.

Findings

The patient had infiltrating ductal carcinoma confirmed by biopsy and imaging.

Genetic testing revealed MUTYH and BARD1 gene mutations in the tumor tissue.

The tumor was histopathologically characterized as Grade 2, ER/PR-positive, and HER2-negative.

Abstract

Male breast cancer is an uncommon diagnosis with limited research on management and prognosis due to its rarity. We discuss a case of a 55-year-old male with a non-contributory past medical history who presented with an enlarging palpable mass of his right breast tissue at the 10:00 position. The ultrasound of the right breast showed a 2.8 cm heterogenous mass with irregular borders highly suspicious for malignancy. The follow-up sonogram-guided core biopsy was performed, and the pathology of the mass confirmed high-grade infiltrating ductal carcinoma. A modified radical mastectomy of the right breast with extensive axillary lymph node excision was performed. Genetic testing of the excised tumor revealed a MUTYH gene mutation and a BARD1 (BRCA1-associated RING domain 1) gene mutation of unknown significance. Histopathological analysis confirmed a Grade 2, ER/PR-positive, KI 67-positive, and HER2-negative tumor.

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