Signatures of mutational processes in human cancer.
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Authors
Alexandrov, Ludmil B
Nik-Zainal, Serena
Wedge, David C
Aparicio, Samuel AJR
Behjati, Sam
Biankin, Andrew V
Bignell, Graham R
Bolli, Niccolò
Borg, Ake
Børresen-Dale, Anne-Lise
Boyault, Sandrine
Burkhardt, Birgit
Butler, Adam P
Davies, Helen R
Desmedt, Christine
Eils, Roland
Eyfjörd, Jórunn Erla
Foekens, John A
Greaves, Mel
Hosoda, Fumie
Hutter, Barbara
Ilicic, Tomislav
Imbeaud, Sandrine
Imielinski, Marcin
Jäger, Natalie
Jones, David TW
Jones, David
Knappskog, Stian
Kool, Marcel
Lakhani, Sunil R
López-Otín, Carlos
Martin, Sancha
Munshi, Nikhil C
Nakamura, Hiromi
Northcott, Paul A
Pajic, Marina
Papaemmanuil, Elli
Paradiso, Angelo
Pearson, John V
Puente, Xose S
Raine, Keiran
Ramakrishna, Manasa
Richardson, Andrea L
Richter, Julia
Rosenstiel, Philip
Schlesner, Matthias
Schumacher, Ton N
Span, Paul N
Teague, Jon W
Totoki, Yasushi
Tutt, Andrew NJ
Valdés-Mas, Rafael
van Buuren, Marit M
van 't Veer, Laura
Vincent-Salomon, Anne
Waddell, Nicola
Yates, Lucy R
Australian Pancreatic Cancer Genome Initiative
ICGC Breast Cancer Consortium
ICGC MMML-Seq Consortium
ICGC PedBrain
Zucman-Rossi, Jessica
Futreal, P Andrew
McDermott, Ultan
Lichter, Peter
Meyerson, Matthew
Grimmond, Sean M
Siebert, Reiner
Campo, Elías
Shibata, Tatsuhiro
Pfister, Stefan M
Campbell, Peter J
Stratton, Michael R
Publication Date
2013-08-22Journal Title
Nature
ISSN
0028-0836
Publisher
Springer Science and Business Media LLC
Volume
500
Issue
7463
Pages
415-421
Language
eng
Type
Article
Physical Medium
Print-Electronic
Metadata
Show full item recordCitation
Alexandrov, L. B., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A., Behjati, S., Biankin, A. V., Bignell, G. R., et al. (2013). Signatures of mutational processes in human cancer.. Nature, 500 (7463), 415-421. https://doi.org/10.1038/nature12477
Abstract
All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here we analysed 4,938,362 mutations from 7,042 cancers and extracted more than 20 distinct mutational signatures. Some are present in many cancer types, notably a signature attributed to the APOBEC family of cytidine deaminases, whereas others are confined to a single cancer class. Certain signatures are associated with age of the patient at cancer diagnosis, known mutagenic exposures or defects in DNA maintenance, but many are of cryptic origin. In addition to these genome-wide mutational signatures, hypermutation localized to small genomic regions, 'kataegis', is found in many cancer types. The results reveal the diversity of mutational processes underlying the development of cancer, with potential implications for understanding of cancer aetiology, prevention and therapy.
Keywords
Australian Pancreatic Cancer Genome Initiative, ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, ICGC PedBrain, Humans, Neoplasms, Cell Transformation, Neoplastic, Cytidine Deaminase, DNA, Mutagens, Reproducibility of Results, Mutagenesis, Insertional, DNA Mutational Analysis, Organ Specificity, Transcription, Genetic, Mutagenesis, Sequence Deletion, Aging, Mutation, Algorithms, Models, Genetic
Identifiers
External DOI: https://doi.org/10.1038/nature12477
This record's URL: https://www.repository.cam.ac.uk/handle/1810/284514
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