Substitution mutational signatures in whole-genome-sequenced cancers in the UK population.
Authors
Zou, Xueqing
Amarante, Tauanne Dias
Martinez-Martinez, Andrea
Koh, Gene Ching Chiek
Dias, João ML
Heskin, Laura
Chmelova, Lucia
Rinaldi, Giuseppe
Wang, Valerie Ya Wen
Nanda, Arjun S
Bernstein, Aaron
Momen, Sophie E
Young, Jamie
Perez-Gil, Daniel
Memari, Yasin
Badja, Cherif
Shooter, Scott
Czarnecki, Jan
Brown, Matthew A
Davies, Helen R
Genomics England Research Consortium
Publication Date
2022-04-22Journal Title
Science
ISSN
0036-8075
Publisher
American Association for the Advancement of Science (AAAS)
Type
Article
This Version
AM
Metadata
Show full item recordCitation
Degasperi, A., Zou, X., Amarante, T. D., Martinez-Martinez, A., Koh, G. C. C., Dias, J. M., Heskin, L., et al. (2022). Substitution mutational signatures in whole-genome-sequenced cancers in the UK population.. Science https://doi.org/10.1126/science.abl9283
Abstract
Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses, revealing mutational signatures, imprints of DNA damage and repair processes that have arisen in each patient's cancer. We performed mutational signature analyses on 12,222 WGS tumor-normal matched pairs, from patients recruited via the UK National Health Service. We contrasted our results to two independent cancer WGS datasets, the International Cancer Genome Consortium (ICGC) and Hartwig Foundation, involving 18,640 WGS cancers in total. Our analyses add 40 single and 18 double substitution signatures to the current mutational signature tally. Critically, we show for each organ, that cancers have a limited number of 'common' signatures and a long tail of 'rare' signatures. We provide a practical solution for utilizing this concept of common versus rare signatures in future analyses.
Sponsorship
Cancer Research UK (23916)
Cancer Research UK (23433)
Cancer Research UK (C60100/A27815)
Dr. Josef Steiner Cancer Foundation (Award 2019)
Gray Foundation (via Massachusetts General Hospital) (235599)
Identifiers
External DOI: https://doi.org/10.1126/science.abl9283
This record's URL: https://www.repository.cam.ac.uk/handle/1810/336115
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