The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution
Open accessAbstract
Patients with chromosome 13q deletion or normal cytogenetics represent the majority of chronic lymphocytic leukaemia (CLL) cases, yet have relatively few driver mutations. To better understand their genomic landscape, here we perform whole-genome sequencing on a cohort of patients enriched with these cytogenetic characteristics. Mutations in known CLL drivers are seen in only 33% of this cohort, and associated with normal cytogenetics and unmutated IGHV. The most commonly mutated gene in our cohort, IGLL5, shows a mutational pattern suggestive of activation-induced cytidine deaminase (AID) activity. Unsupervised analysis of mutational signatures demonstrates the activities of canonical AID (c-AID), leading to clustered mutations near active transcriptional start sites; non-canonical AID (nc-AID), leading to genome-wide non-clustered mutations, and an ageing signature responsible for most mutations. Using mutation clonality to infer time of onset, we find that while ageing and c-AID activities are ongoing, nc-AID-associated mutations likely occur earlier in tumour evolution.
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Signatures of mutational processes in human cancer
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Mutational heterogeneity in cancer and the search for new cancer-associated genes
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Self-citationGreaves, M., & Maley, C. C. (2012) · Nature · doi:10.1038/nature10762 · Cited by 3,162
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Self-citationMassive genomic rearrangement acquired in a single catastrophic event during cancer development
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Evolution and impact of subclonal mutations in chronic lymphocytic leukemia
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Self-citationDNA polymerase η is an A-T mutator in somatic hypermutation of immunoglobulin variable genes
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Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature · doi:10.1038/s41586-020-1943-3 · Cited by 3,496
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Ghandi, M., Huang, F. W., Jané-Valbuena, J., Kryukov, G. V., Lo, C. C., McDonald, E. R., Barretina, J., Gelfand, E. T., Bielski, C. M., Li, H., et al. (2019) · Nature · doi:10.1038/s41586-019-1186-3 · Cited by 3,394
Self-citationComprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma
Ally, A., Balasundaram, M., Carlsen, R., Chuah, E., Clarke, A., Dhalla, N., Holt, R. A., Jones, S. J. M., Lee, D., Ma, Y., et al. (2017) · Cell · doi:10.1016/j.cell.2017.05.046 · Cited by 2,490
Self-citationChapuy, B., Stewart, C., Dunford, A. J., Kim, J., Kamburov, A., Redd, R. A., Lawrence, M. S., Roemer, M. G. M., Li, A. J., Ziepert, M., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0016-8 · Cited by 1,941
Self-citationComprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas
Abeshouse, A., Adebamowo, C., Adebamowo, S. N., Akbani, R., Akeredolu, T., Ally, A., Anderson, M. L., Anur, P., Appelbaum, E. L., Armenia, J., et al. (2017) · Cell · doi:10.1016/j.cell.2017.10.014 · Cited by 1,069
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Metadata
- Authors
- Kasar, S., Kim, J., Improgo, R., Tiao, G., Polak, P., Haradhvala, N., Lawrence, M. S., Kiezun, A., Fernandes, S. M., Bahl, S., Sougnez, C., Gabriel, S., Lander, E. S., Kim, H. T., Getz, G., & Brown, J. R.
- Venue
- Nature Communications
- Published
- 2015-12-07
- Volume
- 6
- Issue
- 1
- Pages
- 8866-8866
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2294814189
- Cited by
- 260
- References
- 9
- FWCI
- 8.64
- Type
- journal article
- Language
- en
- Open access
- gold
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- CoChat. (2026). Citation check: Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution. https://app.cochat.ai/papers/10.1038/ncomms9866
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- Kasar, S., Kim, J., Improgo, R., Tiao, G., Polak, P., Haradhvala, N., Lawrence, M. S., Kiezun, A., Fernandes, S. M., Bahl, S., Sougnez, C., Gabriel, S., Lander, E. S., Kim, H. T., Getz, G., & Brown, J. R. (2015). Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution. Nature Communications. https://doi.org/10.1038/ncomms9866
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.