Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

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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 cancer by a minimum of five childhood cancer patients reported carrying a pathogenic variant in the gene and (2) evidence supporting a causal relation between variants in this gene and cancer development. 138 genes fulfilled the criteria. In this study we have developed criteria to compile a childhood cancer predisposition gene panel which might ultimately be used in a clinical setting, regardless of the specific type of childhood cancer. This panel will be evaluated in a prospective study. The panel is available on ( and will be regularly updated.

Original languageEnglish
JournalFamilial Cancer
Issue number4
Pages (from-to)279-287
Number of pages9
Publication statusPublished - 2021

Bibliographical note

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© 2021, The Author(s).

    Research areas

  • Childhood cancer predisposition syndrome, Gene panel, Gene selection, Genetic predisposition, Pediatric cancer

ID: 302205276