Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel.

ABSTRACT: Increasing use of genomic sequencing enables standardized screening of all childhood cancer predisposition syndromes (CPS) in children with cancer. Gene panels currently used often include adult-onset CPS genes and genes without substantial evidence linking them to cancer predisposition. We have developed criteria to select genes relevant for childhood-onset CPS and assembled a gene panel for use in children with cancer. We applied our criteria to 381 candidate genes, which were selected through two in-house panels (n = 338), a literature search (n = 39), and by assessing two Genomics England's PanelApp panels (n = 4). We developed evaluation criteria that determined a gene's eligibility for inclusion on a childhood-onset CPS gene panel. These criteria assessed (1) relevance in childhood c

SUBMITTER: Byrjalsen A 

PROVIDER: S-EPMC8484084 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature