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Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing.

Genome medicine - 1 Jul 2025

Herrera-Mullar Jennifer, Horton Carolyn, Weaver Amybeth, Towne Meghan, Huang Jennifer M, VanNoy Grace E, Harrison Steven M, Wayburn Bess

Abstract excerpt

BACKGROUND: Defining gene-disease relationships (GDRs) influences the clinical utility of hereditary cancer predisposition (HCP) multigene panel testing (MGPT) results, as variant classification relies directly on gene-disease characterization. GDR characterization for HCP is challenging due to disease prevalence, incomplete penetrance, and heterogeneity. There is insufficient data showing how gene-disease...

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PMID: 40597395
DOI: 10.1186/s13073-025-01499-5
PMCID: PMC12220650

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