ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2025
Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Paediatric therapeutic development workshop on osteosarcoma.British journal of cancer · 2026Review
- SMARCAL1 is a candidate therapeutic target for ALT-positive tumors.Genes & development · 2026Article
- Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms.International journal of molecular sciences · 2026Article
- Understanding and Overcoming Osteosarcoma Heterogeneity.Biomolecules · 2026Review
- Complex structural variations functionally inactivate the telomerase chaperone TCAB1 in osteosarcoma.BMC cancer · 2026Article
- Integrating single-cell and bulk transcriptomes to reveal prognostic and immunological features of ecDNA-related genes in osteosarcoma.Cancer immunology, immunotherapy : CII · 2026Article
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Authors and funding
30 authors.
Funding
Abstract
purposeRecent studies reveal that 5%-18% of children with cancer harbor pathogenic variants in known cancer-predisposing genes. 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.
methodsTo address this gap, we interrogated 189 DDR genes for presence of germline predisposing variants (PV) among 5,993 childhood cancer cases and 14,477 adult noncancer controls (discovery cohort). PV were determined using a tiered approach incorporating ClinVar annotations, InterVar classification, and
resultsAnalysis across all cases with cancer revealed enrichment of
conclusionOur study confirms the relevance DDR genetic variation in pediatric cancer risk and establishes
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