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Study dataset

RAD51B Associated Mixed Cancers (MSK, NPJ Breast Cancer 2021)

Breast and ovarian tumors from germline RAD51B loss-of-function carriers.

Listed Apr 24, 2026

  • Genomic
  • Clinical
  • Pan-cancer

Overview

"Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination" Setton et al., NPJ Breast Cancer, 2021

Overview: This MSK study investigated whether germline loss-of-function variants in RAD51B — a paralog of the known cancer-susceptibility genes RAD51C and RAD51D — are associated with breast and ovarian cancer risk.

Key finding: Tumors with biallelic RAD51B alteration showed evidence of HRD, and the authors concluded that RAD51B should be considered for inclusion in clinical germline testing panels for breast and ovarian cancer susceptibility.

Inside the dataset

  • Prospective tumor/germline sequencing

    of 3,422 consecutively accrued breast and ovarian cancer patients at MSK, using MSK-IMPACT.

  • Population frequency comparison

    against the gnomAD database, finding that pathogenic germline RAD51B loss-of-function variants were significantly enriched in the cancer cohort (0.26%) versus population controls (0.09%), with an odds ratio of 2.69.

  • Genomic analysis of sequencing data

    to assess homologous recombination deficiency (HRD) in tumors with biallelic RAD51B alteration.

  • In vitro functional assays

    to confirm that RAD51B-altered tumors are deficient in homologous recombination DNA repair.

Publications