The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia
Open accessAbstract
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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Citations
Cites
An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072
Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660
Self-citationGenomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia
The Cancer Genome Atlas Research Network (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1301689 · Cited by 5,078
Massive genomic rearrangement acquired in a single catastrophic event during cancer development
Stephens, P. J., Greenman, C. D., Fu, B., Yang, F., Bignell, G. R., Mudie, L. J., Pleasance, E. D., Lau, K. W., Beare, D., Stebbings, L. A., et al. (2011) · Cell · doi:10.1016/j.cell.2010.11.055 · Cited by 2,414
Self-citationThe genetic basis of early T-cell precursor acute lymphoblastic leukaemia
Zhang, J., Ding, L., Holmfeldt, L., Wu, G., Heatley, S. L., Payne-Turner, D., Easton, J., Chen, X., Wang, J., Rusch, M., et al. (2012) · Nature · doi:10.1038/nature10725 · Cited by 1,596
The patterns and dynamics of genomic instability in metastatic pancreatic cancer
Campbell, P. J., Yachida, S., Mudie, L. J., Stephens, P. J., Pleasance, E. D., Stebbings, L. A., Morsberger, L. A., Latimer, C., McLaren, S., Lin, M.-L., et al. (2010) · Nature · doi:10.1038/nature09460 · Cited by 1,317
Self-citationSingle-cell mutational profiling and clonal phylogeny in cancer
Potter, N. E., Ermini, L., Papaemmanuil, E., Cazzaniga, G., Vijayaraghavan, G., Titley, I., Ford, A., Campbell, P., Kearney, L., & Greaves, M. (2013) · Genome Research · doi:10.1101/gr.159913.113 · Cited by 107
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Cited by
Somatic mutation in cancer and normal cells
Martincorena, I., & Campbell, P. J. (2015) · Science · doi:10.1126/science.aab4082 · Cited by 1,396
Self-citationSingle-cell genome sequencing: current state of the science
Gawad, C., Koh, W., & Quake, S. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.16 · Cited by 1,334
Activation of proto-oncogenes by disruption of chromosome neighborhoods
Hnisz, D., Weintraub, A. S., Day, D. S., Valton, A.-L., Bak, R. O., Li, C. H., Goldmann, J., Lajoie, B. R., Fan, Z. P., Sigova, A. A., et al. (2016) · Science · doi:10.1126/science.aad9024 · Cited by 1,042
“T-ALL deletion catalog and overlap analysis Deletions in T-ALL genomes were compiled from multiple studies (22, 26, 59, 60).”
MethodDisruption of chromatin folding domains by somatic genomic rearrangements in human cancer
Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics · doi:10.1038/s41588-019-0564-y · Cited by 283
Self-citationDNA Breaks and End Resection Measured Genome-wide by End Sequencing
Canela, A., Sridharan, S., Sciascia, N., Tubbs, A., Meltzer, P., Sleckman, B. P., & Nussenzweig, A. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.06.034 · Cited by 284
Metadata
- Authors
- Papaemmanuil, E., Rapado, I., Li, Y., Potter, N. E., Wedge, D. C., Tubio, J., Alexandrov, L. B., Van Loo, P., Cooke, S. L., Marshall, J., Martincorena, I., Hinton, J., Gundem, G., van Delft, F. W., Nik-Zainal, S., Jones, D. R., Ramakrishna, M., Titley, I., Stebbings, L., Leroy, C., Menzies, A., Gamble, J., Robinson, B., Mudie, L., Raine, K., O'Meara, S., Teague, J. W., Butler, A. P., Cazzaniga, G., Biondi, A., Zuna, J., Kempski, H., Muschen, M., Ford, A. M., Stratton, M. R., Greaves, M., & Campbell, P. J.
- Venue
- Nature Genetics
- Published
- 2014-01-12
- Volume
- 46
- Issue
- 2
- Pages
- 116-125
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1964110508
- Cited by
- 402
- References
- 7
- FWCI
- 44.43
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia. https://app.cochat.ai/papers/10.1038/ng.2874
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- Papaemmanuil, E., Rapado, I., Li, Y., Potter, N. E., Wedge, D. C., Tubio, J., Alexandrov, L. B., Van Loo, P., Cooke, S. L., Marshall, J., Martincorena, I., Hinton, J., Gundem, G., van Delft, F. W., Nik-Zainal, S., Jones, D. R., Ramakrishna, M., Titley, I., Stebbings, L., . . . Campbell, P. J. (2014). RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia. Nature Genetics. https://doi.org/10.1038/ng.2874
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