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dc.contributor.authorAlexandrov, Ludmil B
dc.contributor.authorNik-Zainal Abidin, Serena
dc.contributor.authorWedge, David C
dc.contributor.authorAparicio, Samuel AJR
dc.contributor.authorBehjati, Sam
dc.contributor.authorBiankin, Andrew V
dc.contributor.authorBignell, Graham R
dc.contributor.authorBolli, Niccolo
dc.contributor.authorBorg, Ake
dc.contributor.authorBørresen-Dale, Anne-Lise
dc.contributor.authorBoyault, Sandrine
dc.contributor.authorBurkhardt, Birgit
dc.contributor.authorButler, Adam P
dc.contributor.authorCaldas, Carlos
dc.contributor.authorDavies, Helen
dc.contributor.authorDesmedt, Christine
dc.contributor.authorEils, Roland
dc.contributor.authorEyfjörd, Jórunn Erla
dc.contributor.authorFoekens, John A
dc.contributor.authorGreaves, Mel
dc.contributor.authorHosoda, Fumie
dc.contributor.authorHutter, Barbara
dc.contributor.authorIlicic, Tomislav
dc.contributor.authorImbeaud, Sandrine
dc.contributor.authorImielinski, Marcin
dc.contributor.authorJäger, Natalie
dc.contributor.authorJones, David TW
dc.contributor.authorJones, David
dc.contributor.authorKnappskog, Stian
dc.contributor.authorKool, Marcel
dc.contributor.authorLakhani, Sunil R
dc.contributor.authorLópez-Otín, Carlos
dc.contributor.authorMartin, Sancha
dc.contributor.authorMunshi, Nikhil C
dc.contributor.authorNakamura, Hiromi
dc.contributor.authorNorthcott, Paul A
dc.contributor.authorPajic, Marina
dc.contributor.authorPapaemmanuil, Elli
dc.contributor.authorParadiso, Angelo
dc.contributor.authorPearson, John V
dc.contributor.authorPuente, Xose S
dc.contributor.authorRaine, Keiran
dc.contributor.authorRamakrishna, Manasa
dc.contributor.authorRichardson, Andrea L
dc.contributor.authorRichter, Julia
dc.contributor.authorRosenstiel, Philip
dc.contributor.authorSchlesner, Matthias
dc.contributor.authorSchumacher, Ton N
dc.contributor.authorSpan, Paul N
dc.contributor.authorTeague, Jon W
dc.contributor.authorTotoki, Yasushi
dc.contributor.authorTutt, Andrew NJ
dc.contributor.authorValdés-Mas, Rafael
dc.contributor.authorvan Buuren, Marit M
dc.contributor.authorvan 't Veer, Laura
dc.contributor.authorVincent-Salomon, Anne
dc.contributor.authorWaddell, Nicola
dc.contributor.authorYates, Lucy R
dc.contributor.authorAustralian Pancreatic Cancer Genome Initiative
dc.contributor.authorICGC Breast Cancer Consortium
dc.contributor.authorICGC MMML-Seq Consortium
dc.contributor.authorICGC PedBrain
dc.contributor.authorZucman-Rossi, Jessica
dc.contributor.authorFutreal, P Andrew
dc.contributor.authorMcDermott, Ultan
dc.contributor.authorLichter, Peter
dc.contributor.authorMeyerson, Matthew
dc.contributor.authorGrimmond, Sean M
dc.contributor.authorSiebert, Reiner
dc.contributor.authorCampo, Elías
dc.contributor.authorShibata, Tatsuhiro
dc.contributor.authorPfister, Stefan M
dc.contributor.authorCampbell, Peter J
dc.contributor.authorStratton, Michael R
dc.date.accessioned2018-11-01T14:03:16Z
dc.date.available2018-11-01T14:03:16Z
dc.date.issued2013-08-22
dc.identifier.issn0028-0836
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/284514
dc.description.abstractAll 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.
dc.format.mediumPrint-Electronic
dc.languageeng
dc.publisherSpringer Science and Business Media LLC
dc.subjectAustralian Pancreatic Cancer Genome Initiative
dc.subjectICGC Breast Cancer Consortium
dc.subjectICGC MMML-Seq Consortium
dc.subjectICGC PedBrain
dc.subjectHumans
dc.subjectNeoplasms
dc.subjectCell Transformation, Neoplastic
dc.subjectCytidine Deaminase
dc.subjectDNA
dc.subjectMutagens
dc.subjectReproducibility of Results
dc.subjectMutagenesis, Insertional
dc.subjectDNA Mutational Analysis
dc.subjectOrgan Specificity
dc.subjectTranscription, Genetic
dc.subjectMutagenesis
dc.subjectSequence Deletion
dc.subjectAging
dc.subjectMutation
dc.subjectAlgorithms
dc.subjectModels, Genetic
dc.titleSignatures of mutational processes in human cancer.
dc.typeArticle
prism.endingPage421
prism.issueIdentifier7463
prism.publicationDate2013
prism.publicationNameNature
prism.startingPage415
prism.volume500
dc.identifier.doi10.17863/CAM.31889
dcterms.dateAccepted2013-07-19
rioxxterms.versionofrecord10.1038/nature12477
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2013-08-14
dc.contributor.orcidNik-Zainal Abidin, Serena [0000-0001-5054-1727]
dc.contributor.orcidCaldas, Carlos [0000-0003-3547-1489]
dc.identifier.eissn1476-4687
rioxxterms.typeJournal Article/Review
cam.issuedOnline2013-08-14
rioxxterms.freetoread.startdate2014-08-14


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