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

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

Abstract 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...

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Bibliographic Details
Main Authors: Jennifer Herrera-Mullar, Carolyn Horton, Amybeth Weaver, Meghan Towne, Jennifer M. Huang, Grace E. VanNoy, Steven M. Harrison, Bess Wayburn
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Genome Medicine
Subjects:
Gene-disease validity
Clinical utility
Hereditary cancer
Multigene panel testing
Genetic counseling
Genetic testing
Online Access:https://doi.org/10.1186/s13073-025-01499-5
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