Male Breast Cancer With Dual BRCA2 and BRIP1 Deleterious Gene Mutations
Shivani B Badve1, Emily Kim2, Udai S Sibia3
1Department of Surgery, Luminis Health, Annapolis, MD.
Ochsner Journal
|June 24, 2024
Summary
This case report details a male patient with male breast cancer and dual BRCA2 and BRIP1 gene mutations, a combination previously unreported. This highlights the need for further research into male breast cancer management.
Area of Science:
- Oncology
- Genetics
- Medical Case Reports
Background:
- Male breast cancer is understudied, with patients typically managed under female breast cancer guidelines.
- Evidence generation for male-specific surveillance, diagnosis, and management is needed.
- BRCA2 mutations increase male breast cancer risk; BRIP1 mutations are also implicated.
Observation:
- A 53-year-old male presented with a symptomatic mass under the right nipple.
- Biopsies revealed poorly differentiated, infiltrating ductal carcinoma (ER+, PR+, HER2-).
- The patient had a left modified radical mastectomy and right prophylactic simple mastectomy.
Findings:
- The patient was found to have deleterious mutations in both BRCA2 and BRIP1 genes.
- This dual mutation combination in male breast cancer is novel and unreported.
- Post-surgery, the patient received adjuvant chemotherapy and endocrine therapy.
Implications:
- This case offers insights into genetically driven male breast cancer and its management.
- It underscores subtle differences between male and female breast cancer.
- Further research is crucial for developing evidence-based strategies for male breast cancer patients.
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