Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel
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Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel. / Byrjalsen, Anna; Diets, Illja J.; Bakhuizen, Jette; Hansen, Thomas van Overeem; Schmiegelow, Kjeld; Gerdes, Anne-Marie; Stoltze, Ulrik; Kuiper, Roland P.; Merks, Johannes H. M.; Wadt, Karin; Jongmans, Marjolijn.
In: Familial Cancer, Vol. 20, No. 4, 2021, p. 279-287.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel
AU - Byrjalsen, Anna
AU - Diets, Illja J.
AU - Bakhuizen, Jette
AU - Hansen, Thomas van Overeem
AU - Schmiegelow, Kjeld
AU - Gerdes, Anne-Marie
AU - Stoltze, Ulrik
AU - Kuiper, Roland P.
AU - Merks, Johannes H. M.
AU - Wadt, Karin
AU - Jongmans, Marjolijn
N1 - Publisher Copyright: © 2021, The Author(s).
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - Childhood cancer predisposition syndrome
KW - Gene panel
KW - Gene selection
KW - Genetic predisposition
KW - Pediatric cancer
U2 - 10.1007/s10689-021-00254-0
DO - 10.1007/s10689-021-00254-0
M3 - Journal article
C2 - 34061292
AN - SCOPUS:85107376347
VL - 20
SP - 279
EP - 287
JO - Familial Cancer
JF - Familial Cancer
SN - 1389-9600
IS - 4
ER -
ID: 302205276