Expanded analysis of secondary germline findings from matched tumor/normal sequencing identifies additional clinically significant mutations.

ABSTRACT: Next-generation sequencing (NGS) for tumor molecular profiling can reveal secondary germline pathogenic and likely pathogenic variants (LPV/PV). The American College of Medical Genetics (ACMG) recommends return of secondary results for a subset of 59 genes, but other genes with evidence of clinical utility are emerging. We previously reported that 4.3% of patients who underwent NGS of a targeted panel of 201 genes had LPV/PV based on the ACMG list. Here we report the frequency of additional germline cancer-related gene variants and discuss their clinical utility. Matched tumor and germline DNA NGS of a targeted panel of 201 genes was performed in a research laboratory on samples from 1000 patients with advanced or metastatic solid tumors enrolled in a molecular testing protocol (NCT0177277

SUBMITTER: Dumbrava EI 

PROVIDER: S-EPMC6741435 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature