Pathogenic variants in PALB2 and ATM genes associated with increased male BC risk

Key clinical point: Germline pathogenic variants (PV) in genes other than BRCA1/2, such as ATM and PALB2, are associated with an increased risk for breast cancer (BC) in men.

Major finding: A higher proportion of males with vs without BC had PV in genes other than BRCA1/2 (4.8% vs 1.8%). Overall, PV in genes other than BRCA1/2 were associated with a >3-fold increased risk for BC (odds ratio [OR] 3.48; P < .0001), with the risk being even higher with PV in PALB2 (OR 7.28; P = .034) and ATM (OR 4.79; P = .035) genes.

Study details: Findings are from a retrospective, case-control study including 767 males with BC who were BRCA1/2-negative and 1349 male control individuals without a personal history of cancer.

Disclosures: This study was supported by Associazione Italiana Ricerca Cancro and other sources. The authors declared no conflicts of interest.

Source: Bucalo A et al. Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: An Italian case-control study. Eur J Cancer. 2023 (May 2). Doi: 10.1016/j.ejca.2023.04.022