Work

Male breast cancer: clinicopathological features and prevalence of germline pathogenic variants

Year: 2026

Type: article

Abstract: PURPOSE: Male breast cancer is rare, and data on its clinicopathological and germline characteristics remain scarce. Our objective was to describe the clinicopathological profile of men with breast cancer and to estimate the prevalence of pathogenic germline variants in cancer predisposition genes. METHODS: This multicenter retrospective study included adult men diagnosed with breast cancer between January 2000 and June 2022 at two institutions. Clinical and pathological data were obtained from medical records. Germline analysis was performed in patients without prior testing using DNA from biobanks or saliva samples and a custom multigene panel. RESULTS: A total of 106 patients were included. Median age at diagnosis was 58.5 years (range, 33-84), and 64% reported a family history of cancer. Invasive ductal carcinoma was the predominant histological subtype (88%). Most tumors were grade 2 or 3 (90%) and hormone receptor-positive (93%). Hormone receptor-negative/HER2-positive disease was rare (1%), and triple-negative breast cancer accounted for 4% of cases. At diagnosis, 65% had stage II or III disease. Germline testing was performed in 55 patients, of whom 12 (22%) harbored pathogenic or likely pathogenic variants. The most frequently affected gene was BRCA2 (11%), followed by CHEK2 (5.5%), MUTYH (3.6%), and RAD51C (1.8%). CONCLUSION: Male breast cancer in this cohort was predominantly luminal, high-grade, and frequently diagnosed at advanced stages. The high prevalence of germline pathogenic variants, including among patients without a strong family history, supports broader implementation of genetic counseling and multigene testing in this population.

Source: Breast Cancer Research and Treatment

DOI: 10.1007/s10549-026-08062-9