Article

Comprehensive investigation of DNA damage repair genes in children with cancer identifies<i>SMARCAL1</i>as novel osteosarcoma predisposition gene

2025-05-13

Abstract excerpt

<h4>Background</h4> 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. <h4>Methods</h4> To address this gap, we inte...

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Literature Corpus work: 7f9dcba6-52cf-5349-92d4-4bc97dda10ba
DOI: 10.1101/2025.05.12.25325832

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