Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

ABSTRACT:

Importance

Tumor genetic sequencing identifies potentially targetable genetic alterations with therapeutic implications. Analysis has concentrated on detecting tumor-specific variants, but recognition of germline variants may prove valuable as well.

Objective

To estimate the burden of germline variants identified through routine clinical tumor sequencing.

Design, setting, and participants

Patients with advanced cancer diagnoses eligible for studies of targeted agents at Memorial Sloan Kettering Cancer Center are offered tumor-normal sequencing with MSK-IMPACT, a 341-gene panel. We surveyed the germline variants seen in 187 overlapping genes with Mendelian disease associations in 1566 patients who had undergone tumor profiling between March and October 2014.

Main ou

SUBMITTER: Schrader KA 

PROVIDER: S-EPMC5477989 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature