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Cited by 260

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 access
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·Nature Communications

Abstract

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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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.