Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.

ABSTRACT: Current guidelines recommend single variant testing in relatives of patients with known pathogenic or likely pathogenic germline variants in cancer predisposition genes. This approach may preclude the use of risk-reducing strategies in family members who have pathogenic or likely pathogenic germline variants in other cancer predisposition genes. Cascade testing using multigene panels was performed in 3696 relatives of 7433 probands. Unexpected pathogenic or likely pathogenic germline variants were identified in 230 (6.2%) relatives, including 144 who were negative for the familial pathogenic or likely pathogenic variant but positive for a pathogenic or likely pathogenic variant in a different gene than the proband and 74 who tested positive for the familial pathogenic or likely pathogenic

SUBMITTER: Heald B 

PROVIDER: S-EPMC10852611 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature