ArticleNature genetics2014
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 249 papers, 1 of them a synthesis that pooled it.
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Who cites it
249 citing papers in PubMed, 1 synthesis or guideline pooled it, 394 citations in OpenAlex.
- Microbiome and pediatric leukemia, diabetes, and allergies: Systematic review and meta-analysis.PloS one · 2025Pooled it
- Modulation of theInternational journal of molecular sciences · 2025Trial
- Trial
- Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.Blood · 2017Trial
- BCR signal strength governs VH gene replacement in peripheral B cells.Cellular & molecular immunology · 2026Article
- Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.The Journal of pathology · 2026Article
- Timing of microbial exposure and risk of infection-promoted acute lymphoblastic leukemia.Haematologica · 2026Article
- A genomic and epigenomic lens into the biology of acute lymphoblastic leukaemia.Nature reviews. Cancer · 2026Review
- Signals from the bone marrow B cell niches shape pre-leukemic fate in a murine model of B cell acute lymphoblastic leukemia.Oncogene · 2026Article
- Developmental timing distinguishes pediatric and adult cancers through retention and rewiring mechanisms.Nature communications · 2026Review
- The gastrointestinal microbiome and constituent short-chain fatty acids: a narrative review of an underexplored axis in acute lymphoblastic leukemia.Gut pathogens · 2026Review
- Genomic fusion breakpoints for DNA-based measurable residual disease monitoring in pediatric acute lymphoblastic leukemia.Leukemia · 2026Article
- RAG-mediated structural variation and its impact on relapse risk in acute lymphoblastic leukemia.medRxiv : the preprint server for health sciences · 2026Article
- The landscape of structural variation in pediatric cancer.Cancer cell · 2026Article
- The newfound relationship between extrachromosomal DNAs and excised signal circles.FEBS letters · 2026Review
- Pediatric leukemia: origins, pathogenesis, the role of microenvironment and immunological modulation.Frontiers in immunology · 2026Review
- Prognostic Value and Immune Characterization of Genes Associated with Childhood Acute Leukemia applying Single-Cell RNA Sequencing.Endocrine, metabolic & immune disorders drug targets · 2026Article
- Jk Dna Gaga Motifs Are Required for Local Nucleosome Remodeling and Vk-jk Recombination.Research square · 2025Article
- The nonamer code for RAG-mediated recombination in vivo.Nucleic acids research · 2025Article
- Recombination between fragile regions associated with chromosomal rearrangements in glioblastoma can be mediated by RAGs.iScience · 2025Article
189 more citing papers are in PubMed but not listed here.
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Authors and funding
37 authors at 8 institutions in 5 countries.
Funding
Abstract
The ETV6-RUNX1 fusion gene, found in 25% of childhood acute lymphoblastic leukemia (ALL) cases, is acquired in utero but requires additional somatic mutations for overt leukemia. We used exome and low-coverage whole-genome sequencing to characterize secondary events associated with leukemic transformation. RAG-mediated deletions emerge as the dominant mutational process, characterized by recombination signal sequence motifs near breakpoints, incorporation of non-templated sequence at junctions, ∼30-fold enrichment at promoters and enhancers of genes actively transcribed in B cell development and an unexpectedly high ratio of recurrent to non-recurrent structural variants. Single-cell tracking shows that this mechanism is active throughout leukemic evolution, with evidence of localized clustering and reiterated deletions. Integration of data on point mutations and rearrangements identifies ATF7IP and MGA as two new tumor-suppressor genes in ALL. Thus, a remarkably parsimonious mutational process transforms ETV6-RUNX1-positive lymphoblasts, targeting the promoters, enhancers and first exons of genes that normally regulate B cell differentiation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.