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Article

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

Cancer research communications - 1 Aug 2025

Kurian Allison W, Gornstein Erica, Heppler Lisa, Dougherty Kali Chatham, Keller-Evans Rachel B

Abstract excerpt

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...

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Identifiers

PMID: 40698722
DOI: 10.1158/2767-9764.CRC-25-0038
PMCID: PMC12322967

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