ArticleJCO precision oncology2025
Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.
Article in JCO precision oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population.Familial cancer · 2026Article
- Renal cell carcinoma risk among individuals heterozygous for fumarate hydratase variants: further insights into genotype-phenotype correlations.Hereditary cancer in clinical practice · 2026Article
- Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients.Journal of personalized medicine · 2024Article
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3 authors.
Funding
Abstract
purposeGrowing 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
methodsThis 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.
resultsAll 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 PGVs, 22/64 (34%) patients carried at least two PGVs in high- or moderate-risk genes, and 33/64 (52%) carried at least two PGVs that result in potential management changes. Five percent (30/557) of all patients with a PGV in
conclusionAlthough the overall percentage of patients undergoing clinical genetic testing with multiple PGVs is small, a significant fraction of these patients could benefit from medical management changes because of the identification of multiple PGVs.
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