Signatures of mutational processes in human cancer

Research output: Contribution to journalArticle


title = "Signatures of mutational processes in human cancer",
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.",
author = "Alexandrov, {Ludmil B.} and Serena Nik-Zainal and Wedge, {David C.} and Aparicio, {Samuel A. J. R.} and Sam Behjati and Biankin, {Andrew V.} and Bignell, {Graham R.} and Niccolo Bolli and {\AA}ke Borg and Anne-Lise Borresen-Dale and Sandrine Boyault and Birgit Burkhardt and Butler, {Adam P.} and Carlos Caldas and Davies, {Helen R.} and Christine Desmedt and Roland Eils and Eyfjord, {Jorunn Erla} and Foekens, {John A.} and Mel Greaves and Fumie Hosoda and Barbara Hutter and Tomislav Ilicic and Sandrine Imbeaud and Marcin Imielinsk and Natalie Jaeger and Jones, {David T. W.} and David Jones and Stian Knappskog and Marcel Kool and Lakhani, {Sunil R.} and Carlos Lopez-Otin and Sancha Martin and Munshi, {Nikhil C.} and Hiromi Nakamura and Northcott, {Paul A.} and Marina Pajic and Elli Papaemmanuil and Angelo Paradiso and Pearson, {John V.} and Puente, {Xose S.} and Keiran Raine and Manasa Ramakrishna and Richardson, {Andrea L.} and Julia Richter and Philip Rosenstiel and Matthias Schlesner and Schumacher, {Ton N.} and Span, {Paul N.} and Teague, {Jon W.} and Yasushi Totoki and Tutt, {Andrew N. J.} and Rafael Valdes-Mas and {van Buuren}, {Marit M.} and {van 't Veer}, Laura and Anne Vincent-Salomon and Nicola Waddell and Yates, {Lucy R.} and Jessica Zucman-Rossi and Futreal, {P. Andrew} and Ultan McDermott and Peter Lichter and Matthew Meyerson and Grimmond, {Sean M.} and Reiner Siebert and Elias Campo and Tatsuhiro Shibata and Pfister, {Stefan M.} and Campbell, {Peter J.} and Stratton, {Michael R.}",
year = "2013",
doi = "10.1038/nature12477",
language = "English",
volume = "500",
pages = "415--421",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "7463",