ArticlemedRxiv : the preprint server for health sciences2025
Comprehensive investigation of DNA damage repair genes in children with cancer identifies
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Recent large-scale genomic sequencing studies reveal that 5-18% of children with cancer harbor pathogenic variants (PV) in known cancer predisposing genes (CPG). However, DNA damage repair (DDR) genes, which are frequently somatically altered in pediatric tumors, have not been systematically examined as a source of novel cancer predisposing signals. Methods: To address this gap, we interrogated 189 genes across six DDR pathways for the presence of PV among 5,993 childhood cancer cases and 14,477 adult non-cancer controls. PV were defined as rare (allele frequency <0.05% in the gnomAD v2.1 non-cancer subset), nonsense, frameshift, affecting canonical splice sites, and missense with REVEL score >0.7. Using logistic and firth regression, we identified genes with statistically enriched PV and replicated findings among 1,494 additional childhood cancer cases across three independent cohorts. Findings: Analysis across all cancers revealed enrichment of Interpretation: Our study identifies
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