Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.

ABSTRACT:

Background

Tumor-only sequencing, implemented for the identification of somatic variants, is oftentimes used for the detection of actionable germline variants. We sought to determine whether tumor-only sequencing assays are suitable for detection of actionable germline variants, given their importance for the delivery of targeted therapies and risk-reducing measures.

Patients and methods

The detection of germline variants affecting moderate- and high-penetrance cancer susceptibility genes (CSGs) by tumor-only sequencing was compared to clinical germline testing in 21 333 cancer patients who underwent tumor and germline testing using the Food and Drug Administration (FDA)-authorized Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Targets (MSK-IMPACT) assa

SUBMITTER: Terraf P 

PROVIDER: S-EPMC9172914 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature