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

**Authors:** Joseph McGrath, Dillin J Rhatigan, Danielle Donahue, Mackenzie Fannin, Nuria Lawson

PMC · DOI: 10.7759/cureus.66216 · 2024-08-05

## 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.

## Key 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.

## Linked entities

- **Genes:** MUTYH (mutY DNA glycosylase) [NCBI Gene 4595], BARD1 (BRCA1 associated RING domain 1) [NCBI Gene 580]
- **Diseases:** breast cancer (MONDO:0004989)

## Full-text entities

- **Genes:** PGR (progesterone receptor) [NCBI Gene 5241] {aka NR3C3, PR}, EREG (epiregulin) [NCBI Gene 2069] {aka EPR, ER, Ep}, ERBB2 (erb-b2 receptor tyrosine kinase 2) [NCBI Gene 2064] {aka CD340, HER-2, HER-2/neu, HER2, MLN 19, MLN-19}, MUTYH (mutY DNA glycosylase) [NCBI Gene 4595] {aka MYH}, BARD1 (BRCA1 associated RING domain 1) [NCBI Gene 580]
- **Diseases:** infiltrating ductal carcinoma (MESH:D044584), malignancy (MESH:D009369), Ductal Breast Carcinoma (MESH:D018270), Male breast cancer (MESH:D018567)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11374429/full.md

---
Source: https://tomesphere.com/paper/PMC11374429