Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing.

ABSTRACT: Tumor-only genomic profiling (TGP) is increasingly advocated for all patients with cancer given the possible therapeutic implications. It is critical to develop clinical algorithms to identify and address potentially actionable germline findings identified by TGP. A multidisciplinary team analyzed publicly available data for genes in which mutations are implicated in germline cancer susceptibility and established a pipeline to automate clinical referral for evaluation of TGP findings. A total of 2,308 patients underwent TGP, with 81 patients (3.5%) identified by the automatic referral pipeline; 37 patients (1.6%) were referred outside the pipeline based on concerns by the molecular geneticist, pathologist, or oncologist regarding genotype-phenotype correlation. Thirty-one patients (38%) an

SUBMITTER: Clark DF 

PROVIDER: S-EPMC6738953 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature