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.
Abstract:
Background: Male breast cancer remains relatively underexplored in the medical literature. At present, male patients with breast cancer follow the same treatment guidelines as female patients with breast cancer, principally because of similar outcomes with treatment. However, this practice should not preclude generating evidence for male breast cancer surveillance, diagnosis, and management. BRCA2 gene mutations are associated with an increased risk of male breast cancer, along with lesser-known gene mutations that could also increase this risk, such as mutations of the BRIP1 gene. This case report presents a male patient with dual BRCA2 and BRIP1 deleterious gene mutations. To our knowledge, this combination has not been reported in the medical literature to date. Case Report: A 53-year-old male presented with a palpable symptomatic mass underneath the right nipple-areolar complex. Biopsies confirmed a poorly differentiated, infiltrating ductal carcinoma that was estrogen and progesterone receptor positive and human epidermal growth factor receptor-2 negative. The patient underwent a left modified radical mastectomy, with a right prophylactic simple mastectomy. Postoperatively, he underwent adjuvant chemotherapy and endocrine therapy. Conclusion: This novel case of genetically based male breast cancer with dual deleterious gene mutations provides insight into current treatment recommendations and the subtle differences between male breast cancer and female breast cancer. Engaging in discussions surrounding such rare cases not only raises awareness of male breast cancer but also indicates the need for further research aimed at establishing evidence-based management strategies for male patients with breast cancer.
Insights
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.
More Related Videos
Related Concept Videos
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Targeted Cancer Therapies
There are several types of targeted therapies against...
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancers Originate from Somatic Mutations in a Single Cell
Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...


