EP048: Identifying cancer predisposition in a series of 1,521 pediatric oncology patients by tumor-only panel-based testing

Abstract

Tumor-only profiling by next-generation sequencing (NGS) has been implemented in the pediatric oncology setting to enhance pathologic diagnosis, provide prognosis, and identify molecular targets for therapy. Clinically significant germline variants in cancer susceptibility genes covered by the assay will also be detected with this approach. Current guidelines regarding the threshold of triggering follow-up testing for germline pathogenic variants detected by tumor-only NGS are limited, given the challenge of distinguishing germline vs somatic variants as well as the need for follow-up germline confirmatory testing and genetic consultation.