Work

Case report: metachronous male metastatic breast and colon cancer in a BRCA2 mutation carrier

Year: 2025

Type: article

Abstract: INTRODUCTION AND IMPORTANCE: Male breast cancer (MBC) is rare and typically diagnosed at later stages, often in older men. Pathogenic BRCA2 mutations are implicated in a significant proportion of MBC cases and may confer increased risk for other cancers. CASE PRESENTATION: A 66-year-old male presented with right upper limb edema and back soreness. Imaging and biopsy confirmed stage IV invasive ductal carcinoma, Luminal B HER2-negative. Genetic testing revealed a germline BRCA2 mutation. During routine imaging, a second primary colon cancer was discovered and resected. CLINICAL DISCUSSION: MBC represents less than 1% of all male cancers and is frequently associated with delayed diagnosis. BRCA2 mutations significantly increase the risk for male breast and gastrointestinal cancers. This patient underwent endocrine and CDK4/6 inhibitor therapy and followed by surgery and adjuvant chemotherapy for the colon carcinoma. Disease remained stable on follow-up. CONCLUSION: This case highlights the importance of genetic testing, vigilance for second primary malignancies in BRCA2 carriers, and the value of multidisciplinary care for MBC patients. The co-occurrence of these malignancies in a male BRCA2 carrier is rare and underscores the need for broader surveillance in such patients.

Source: Discover Oncology

DOI: 10.1007/s12672-025-03555-3

Authors: Emiliana Larionesi, Oana-Nicoleta Pilet, Christos Sotiriou

Institutions: Centre Hospitalier de Wallonie Picarde, Université Libre de Bruxelles, Institut Jules Bordet

Language: English

Topic: Male Breast Health Studies

Subfield: Public Health, Environmental and Occupational Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,690