ClinVar Database Evolution and Impact on Potential Pathogenic Germline Variant Reporting from Tumor Comprehensive Genomic Profiling.

ABSTRACT: Although recommended for a high percentage of patients with cancer, germline genetic testing is widely underutilized. Classification of pathogenic variants of potential germline origin (potential pathogenic germline variants; PPGV) from tumor comprehensive genomic profiling enables identification of patients and families with high cancer risk via an alternative pathway to clinical germline evaluation. Foundation Medicine utilizes evidence in the ClinVar database to classify PPGVs. We investigated the impact of ClinVar database evolution over a 2-year period on the classification of PPGVs across solid tumors. Substantial growth in the database (a 52.2% increase in classified variants across 24 cancer susceptibility genes) yielded a modest increase in PPGV prevalence (+0.5% across tissue and

SUBMITTER: Kurian AW 

PROVIDER: S-EPMC12322967 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature