Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

ABSTRACT:

Importance

Whole-exome sequencing (WES) has the potential to reveal tumor and germline mutations of clinical relevance, but the diagnostic yield for pediatric patients with solid tumors is unknown.

Objective

To characterize the diagnostic yield of combined tumor and germline WES for children with solid tumors.

Design

Unselected children with newly diagnosed and previously untreated central nervous system (CNS) and non-CNS solid tumors were prospectively enrolled in the BASIC3 study at a large academic children's hospital during a 23-month period from August 2012 through June 2014. Blood and tumor samples underwent WES in a certified clinical laboratory with genetic results categorized on the basis of perceived clinical relevance and entered in the electronic health re

SUBMITTER: Parsons DW 

PROVIDER: S-EPMC5471125 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature