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000177478 037__ $$aDKFZ-2021-02565
000177478 041__ $$aEnglish
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000177478 1001_ $$aAlexandrov, Ludmil B$$b0
000177478 245__ $$aThe repertoire of mutational signatures in human cancer.
000177478 260__ $$aLondon [u.a.]$$bNature Publ. Group$$c2020
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000177478 500__ $$asiehe Correction: DKFZ Autoren affiliiert im PCAWG Consortium;https://inrepo02.dkfz.de/record/265690 / https://doi.org/10.1038/s41586-022-05600-5
000177478 520__ $$aSomatic 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.
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000177478 650_2 $$2MeSH$$aAge Factors
000177478 650_2 $$2MeSH$$aBase Sequence
000177478 650_2 $$2MeSH$$aExome: genetics
000177478 650_2 $$2MeSH$$aGenome, Human: genetics
000177478 650_2 $$2MeSH$$aHumans
000177478 650_2 $$2MeSH$$aMutation: genetics
000177478 650_2 $$2MeSH$$aNeoplasms: genetics
000177478 650_2 $$2MeSH$$aSequence Analysis, DNA
000177478 7001_ $$aKim, Jaegil$$b1
000177478 7001_ $$aHaradhvala, Nicholas J$$b2
000177478 7001_ $$aHuang, Mi Ni$$b3
000177478 7001_ $$aTian Ng, Alvin Wei$$b4
000177478 7001_ $$aWu, Yang$$b5
000177478 7001_ $$aBoot, Arnoud$$b6
000177478 7001_ $$aCovington, Kyle R$$b7
000177478 7001_ $$aGordenin, Dmitry A$$b8
000177478 7001_ $$aBergstrom, Erik N$$b9
000177478 7001_ $$aIslam, S M Ashiqul$$b10
000177478 7001_ $$aLopez-Bigas, Nuria$$b11
000177478 7001_ $$aKlimczak, Leszek J$$b12
000177478 7001_ $$aMcPherson, John R$$b13
000177478 7001_ $$aMorganella, Sandro$$b14
000177478 7001_ $$aSabarinathan, Radhakrishnan$$b15
000177478 7001_ $$aWheeler, David A$$b16
000177478 7001_ $$aMustonen, Ville$$b17
000177478 7001_ $$0P:(DE-HGF)0$$aPCAWGMutationalSignaturesWorkingGroup$$b18
000177478 7001_ $$aGetz, Gad$$b19
000177478 7001_ $$aRozen, Steven G$$b20
000177478 7001_ $$aStratton, Michael R$$b21
000177478 7001_ $$0P:(DE-HGF)0$$aPCAWGConsortium$$b22
000177478 773__ $$0PERI:(DE-600)1413423-8$$a10.1038/s41586-020-1943-3$$gVol. 578, no. 7793, p. 94 - 101$$n7793$$p94 - 101$$tNature <London>$$v578$$x1476-4687$$y2020
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000177478 9141_ $$y2020
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