Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

Anna Byrjalsen, Illja J Diets, Jette Bakhuizen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Ulrik Stoltze, Roland P Kuiper, Johannes H M Merks, Karin Wadt, Marjolijn Jongmans

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

4 Citaten (Scopus)


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.

Originele taal-2Engels
Pagina's (van-tot)279-287
Aantal pagina's9
TijdschriftFamilial Cancer
Nummer van het tijdschrift4
StatusGepubliceerd - jun. 2021


Duik in de onderzoeksthema's van 'Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel'. Samen vormen ze een unieke vingerafdruk.

Citeer dit