Signatures of mutational processes in human cancer

Alexandrov, Ludmil B., Nik-Zainal, Serena, Wedge, David C., Aparicio, Samuel A. J. R., Behjati, Sam, Biankin, Andrew V., Bignell, Graham R., Bolli, Niccolo, Borg, Ake, Borresen-Dale, Anne-Lise, Boyault, Sandrine, Burkhardt, Birgit, Butler, Adam P., Caldas, Carlos, Davies, Helen R., Desmedt, Christine, Eils, Roland, Eyfjord, Jorunn Erla, Foekens, John A., Greaves, Mel, Hosoda, Fumie, Hutter, Barbara, Ilicic, Tomislav, Imbeaud, Sandrine, Imielinsk, Marcin, Jaeger, Natalie, Jones, David T. W., Jones, David, Knappskog, Stian, Kool, Marcel, Lakhani, Sunil R., Lopez-Otin, 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 N. J., Valdes-Mas, Rafael, van Buuren, Marit M., van 't Veer, Laura, Vincent-Salomon, Anne, Waddell, Nicola, Yates, Lucy R., Zucman-Rossi, Jessica, Futreal, P. Andrew, McDermott, Ultan, Lichter, Peter, Meyerson, Matthew, Grimmond, Sean M., Siebert, Reiner, Campo, Elias, Shibata, Tatsuhiro, Pfister, Stefan M., Campbell, Peter J. and Stratton, Michael R. (2013) Signatures of mutational processes in human cancer. Nature, 500 7463: 415-421. doi:10.1038/nature12477

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Author Alexandrov, Ludmil B.
Nik-Zainal, Serena
Wedge, David C.
Aparicio, Samuel A. J. R.
Behjati, Sam
Biankin, Andrew V.
Bignell, Graham R.
Bolli, Niccolo
Borg, Ake
Borresen-Dale, Anne-Lise
Boyault, Sandrine
Burkhardt, Birgit
Butler, Adam P.
Caldas, Carlos
Davies, Helen R.
Desmedt, Christine
Eils, Roland
Eyfjord, Jorunn Erla
Foekens, John A.
Greaves, Mel
Hosoda, Fumie
Hutter, Barbara
Ilicic, Tomislav
Imbeaud, Sandrine
Imielinsk, Marcin
Jaeger, Natalie
Jones, David T. W.
Jones, David
Knappskog, Stian
Kool, Marcel
Lakhani, Sunil R.
Lopez-Otin, 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 N. J.
Valdes-Mas, Rafael
van Buuren, Marit M.
van 't Veer, Laura
Vincent-Salomon, Anne
Waddell, Nicola
Yates, Lucy R.
Zucman-Rossi, Jessica
Futreal, P. Andrew
McDermott, Ultan
Lichter, Peter
Meyerson, Matthew
Grimmond, Sean M.
Siebert, Reiner
Campo, Elias
Shibata, Tatsuhiro
Pfister, Stefan M.
Campbell, Peter J.
Stratton, Michael R.
Title Signatures of mutational processes in human cancer
Journal name Nature   Check publisher's open access policy
ISSN 0028-0836
Publication date 2013-08-01
Year available 2013
Sub-type Article (original research)
DOI 10.1038/nature12477
Open Access Status File (Author Post-print)
Volume 500
Issue 7463
Start page 415
End page 421
Total pages 10
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Subject 1000 General
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.
Keyword Acute lymphoblastic leukemia
Squamous cell carcinoma
Acute myeloid leukemia
21 breast cancers
Lung adenocarcinoma
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

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