Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study.

ABSTRACT:

Purpose

To evaluate the relative diagnostic yield of clinical germline genomic tests in a diverse pediatric cancer population.

Patients and methods

The KidsCanSeq study enrolled pediatric cancer patients across six sites in Texas. Germline analysis included both exome sequencing and a therapy-focused pediatric cancer gene panel. The results were categorized by participants demographics, the presence of pathogenic or likely pathogenic (P/LP) variants, and variants of uncertain significance (VUS) in cancer predisposition genes (CPGs). Pediatric actionable CPGs were defined as those with cancer surveillance recommendations during childhood.

Results

Cancer P/LP variants were reported by at least one platform in 103 of 578 (17.8%) participants of which 76 were dominant can

SUBMITTER: Desrosiers-Battu LR 

PROVIDER: S-EPMC11392521 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature