Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.

ABSTRACT:

Purpose

Growing use of multigene panels (MGPs) is increasing the number of patients identified with multiple pathogenic germline variants (PGVs) in cancer predisposition genes. This study characterizes the landscape of patients with multiple PGVs and identifies clinical settings where multiple PGVs affect management.

Materials and methods

This is a single-institution retrospective cohort analysis comprising patients seen in the Department of Clinical Genetics and consented to the Risk Assessment Program (RAP) Registry who were evaluated with a MGP and found to have multiple PGVs.

Results

All patients tested between January 1, 2014, and January 1, 2024, and found to have multiple PGV are included. Sixty-four patients (64/7,961, 0.8%) from 58 families carried multiple P

SUBMITTER: Neumann C 

PROVIDER: S-EPMC12537039 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature