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 (pediatric-cancer-predisposition-genepanel.nl) and will be regularly updated.
Originalsprog | Engelsk |
---|---|
Tidsskrift | Familial Cancer |
Vol/bind | 20 |
Udgave nummer | 4 |
Sider (fra-til) | 279-287 |
Antal sider | 9 |
ISSN | 1389-9600 |
DOI | |
Status | Udgivet - 2021 |
Bibliografisk note
Funding Information:
The study was supported by the COST Action AC16223 “LEukemia GENe Discovery by data sharing, mining and collaboration (LEGEND)”.
Publisher Copyright:
© 2021, The Author(s).
ID: 302205276