Cancer genetics · 2026
Evolution of germline testing, mutation spectrum and clinico-pathological features in male breast cancer: a 27-year retrospective cohort including 69 patients.
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Taris Nicolas, Amand Nile Duflos De Saint, Hild Carole, Mathelin Carole, Chrétien Manon
Аннотация
BACKGROUND: Male breast cancer (MBC) is rare, and its genetic basis remains poorly characterized. Over the past few decades, genetic screening strategies have evolved from analyses focusing solely on the BRCA1/2 genes to extensive multigene panels. Longitudinal data describing this transition in men remain scarce.
METHODS: All men diagnosed with breast cancer and referred for germline genetic testing between 1998 and 2025 at our institution were included. Clinical characteristics, test indications, genes analyzed, and pathogenic/probably pathogenic (P/LP) variants were extracted. Three periods covering the transition from Sanger sequencing to next-generation sequencing (NGS) were considered: between 1998 and 2015, 26 patients were tested for BRCA1/2 only. Between 2015 and 2018, 10 patients underwent limited multigene panel testing (6-8 genes). From 2018 onward, 29 patients were tested using a nationally validated 13-gene panel, and in the most recent two years, 4 patients underwent extensive genetic testing covering 17 genes, including non-consensus genes.
RESULTS: Sixty-nine men underwent genetic testing. Overall, P/LP variants were identified in 13% (9/69) of patients, in BRCA2 (n=4), PALB2 (n=2), ATM (n=2), and BRCA1 (n=1). The mean age at diagnosis was higher among variant carriers compared with non-carriers (69.9 (±7.4) years vs 65.7 (±12.3)), except for BRCA2 carriers, who were diagnosed at a younger age (63.8 (±5.0)). A family history suggestive of hereditary breast and ovarian cancer was absent in 71% of the overall cohort. One BRCA2-positive family included three cases of male breast cancer.
CONCLUSION: Over 27 years, germline testing in male breast cancer shifted from BRCA-focused strategies to multigene panels, revealing a broader spectrum of susceptibility genes. These findings support systematic genetic testing for all men with breast cancer, regardless of age and family history.
METHODS: All men diagnosed with breast cancer and referred for germline genetic testing between 1998 and 2025 at our institution were included. Clinical characteristics, test indications, genes analyzed, and pathogenic/probably pathogenic (P/LP) variants were extracted. Three periods covering the transition from Sanger sequencing to next-generation sequencing (NGS) were considered: between 1998 and 2015, 26 patients were tested for BRCA1/2 only. Between 2015 and 2018, 10 patients underwent limited multigene panel testing (6-8 genes). From 2018 onward, 29 patients were tested using a nationally validated 13-gene panel, and in the most recent two years, 4 patients underwent extensive genetic testing covering 17 genes, including non-consensus genes.
RESULTS: Sixty-nine men underwent genetic testing. Overall, P/LP variants were identified in 13% (9/69) of patients, in BRCA2 (n=4), PALB2 (n=2), ATM (n=2), and BRCA1 (n=1). The mean age at diagnosis was higher among variant carriers compared with non-carriers (69.9 (±7.4) years vs 65.7 (±12.3)), except for BRCA2 carriers, who were diagnosed at a younger age (63.8 (±5.0)). A family history suggestive of hereditary breast and ovarian cancer was absent in 71% of the overall cohort. One BRCA2-positive family included three cases of male breast cancer.
CONCLUSION: Over 27 years, germline testing in male breast cancer shifted from BRCA-focused strategies to multigene panels, revealing a broader spectrum of susceptibility genes. These findings support systematic genetic testing for all men with breast cancer, regardless of age and family history.