The landscape of structural variation in pediatric cancer - PubMed
4 hours ago
- #RAG-mediated recombination
- #structural variation
- #pediatric cancer
- Structural variants (SVs) account for over 60% of pediatric cancer driver variants.
- Pediatric SV burden varies significantly across cancer types and is reduced compared to adult brain and solid tumors but comparable in hematological malignancies.
- Top-ranked SV-disrupted genes are drivers in pediatric cancers and fragile sites in adult cancers.
- Recurrent SV hotspots near RAG recombination signal sequences disrupt immune loci and driver genes in pediatric acute lymphoblastic leukemias.
- Ten extracted SV signatures implicate RAG-mediated mutagenesis as a potential etiology for COSMIC SV7 in lymphoid cancers.
- Clustering of samples from 13 patients reveals ongoing evolutionary contributions of SVs to intra-tumor heterogeneity and driver selection.
- The study expands the known scope of RAG-mediated mutagenesis and provides a curated SV dataset for future research and clinical testing.