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dc.contributor.authorAlexandrov, Ludmil B
dc.contributor.authorKim, Jaegil
dc.contributor.authorHaradhvala, Nicholas J
dc.contributor.authorHuang, Mi Ni
dc.contributor.authorTian Ng, Alvin Wei
dc.contributor.authorWu, Yang
dc.contributor.authorBoot, Arnoud
dc.contributor.authorCovington, Kyle R
dc.contributor.authorGordenin, Dmitry A
dc.contributor.authorBergstrom, Erik N
dc.contributor.authorIslam, SM Ashiqul
dc.contributor.authorLopez-Bigas, Nuria
dc.contributor.authorKlimczak, Leszek J
dc.contributor.authorMcPherson, John R
dc.contributor.authorMorganella, Sandro
dc.contributor.authorSabarinathan, Radhakrishnan
dc.contributor.authorWheeler, David A
dc.contributor.authorMustonen, Ville
dc.contributor.authorPCAWG Mutational Signatures Working Group
dc.contributor.authorGetz, Gad
dc.contributor.authorRozen, Steven G
dc.contributor.authorStratton, Michael R
dc.contributor.authorPCAWG Consortium
dc.date.accessioned2021-02-04T16:25:31Z
dc.date.available2021-02-04T16:25:31Z
dc.date.issued2020-02
dc.date.submitted2018-05-18
dc.identifier.issn0028-0836
dc.identifier.others41586-020-1943-3
dc.identifier.other1943
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/317160
dc.description.abstractSomatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature1. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium2 of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we characterized mutational signatures using 84,729,690 somatic mutations from 4,645 whole-genome and 19,184 exome sequences that encompass most types of cancer. We identified 49 single-base-substitution, 11 doublet-base-substitution, 4 clustered-base-substitution and 17 small insertion-and-deletion signatures. The substantial size of our dataset, compared with previous analyses3-15, enabled the discovery of new signatures, the separation of overlapping signatures and the decomposition of signatures into components that may represent associated-but distinct-DNA damage, repair and/or replication mechanisms. By estimating the contribution of each signature to the mutational catalogues of individual cancer genomes, we revealed associations of signatures to exogenous or endogenous exposures, as well as to defective DNA-maintenance processes. However, many signatures are of unknown cause. This analysis provides a systematic perspective on the repertoire of mutational processes that contribute to the development of human cancer.
dc.languageen
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International (CC BY 4.0)
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectArticle
dc.subject/631/67/68
dc.subject/631/208/737
dc.subject/45/23
dc.subjectarticle
dc.titleThe repertoire of mutational signatures in human cancer.
dc.typeArticle
dc.date.updated2021-02-04T16:25:30Z
prism.endingPage101
prism.issueIdentifier7793
prism.publicationNameNature
prism.startingPage94
prism.volume578
dc.identifier.doi10.17863/CAM.64271
dcterms.dateAccepted2019-11-18
rioxxterms.versionofrecord10.1038/s41586-020-1943-3
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.identifier.eissn1476-4687
cam.issuedOnline2020-02-05


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)