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.

越来越多地使用基因组测序可以对癌症儿童的所有儿童癌症易感综合征 (CPS) 进行标准化筛查。目前使用的基因组通常包括成人发病的 CPS 基因和没有大量​​证据将它们与癌症易感性联系起来的基因。我们制定了标准来选择与儿童期发病 CPS 相关的基因，并组装了一个基因组以用于患有癌症的儿童。我们将我们的标准应用于 381 个候选基因，这些基因是通过两个内部小组 (n = 338)、文献搜索 (n = 39) 和评估两个 Genomics England 的 PanelApp 小组 (n = 4) 选择的。我们制定了确定基因是否有资格纳入儿童期发病 CPS 基因组的评估标准。这些标准评估了 (1) 至少 5 名儿童癌症患者报告携带该基因致病性变异的儿童癌症相关性和 (2) 支持该基因变异与癌症发展之间因果关系的证据。138 个基因符合标准。在这项研究中，我们制定了编制儿童癌症易感基因组的标准，无论儿童癌症的具体类型如何，该基因组最终都可能用于临床环境。该小组将在一项前瞻性研究中进行评估。该小组可在 (pediatric-cancer-predisposition-genepanel.nl) 上找到，并将定期更新。在这项研究中，我们制定了编制儿童癌症易感基因组的标准，无论儿童癌症的具体类型如何，该基因组最终都可能用于临床环境。该小组将在一项前瞻性研究中进行评估。该小组可在 (pediatric-cancer-predisposition-genepanel.nl) 上找到，并将定期更新。在这项研究中，我们制定了编制儿童癌症易感基因组的标准，无论儿童癌症的具体类型如何，该基因组最终都可能用于临床环境。该小组将在一项前瞻性研究中进行评估。该小组可在 (pediatric-cancer-predisposition-genepanel.nl) 上找到，并将定期更新。