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Pathogenic germline mutations in the RAD51 paralog genes  RAD51C  and  RAD51D , are known to confer susceptibility to ovarian and triple-negative breast cancer. Here, we investigated whether germline loss-of-function variants affecting another RAD51 paralog gene,  RAD51B , are also associated with breast and ovarian cancer. Among 3422 consecutively accrued breast and ovarian cancer patients consented to tumor/germline sequencing, the observed carrier frequency of loss-of-function germline  RAD51B  variants was significantly higher than control cases from the gnomAD population database (0.26% vs 0.09%), with an odds ratio of 2.69 (95% CI: 1.4–5.3). Furthermore, we demonstrate that tumors harboring biallelic  RAD51B  alteration are deficient in homologous recombination DNA repair deficiency (HRD), as evidenced by analysis of sequencing data and in vitro functional assays. Our findings suggest that  RAD51B  should be considered as an addition to clinical germline testing panels for breast and ovarian cancer susceptibility.

Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination