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000163800 037__ $$aDKFZ-2020-02053
000163800 041__ $$aeng
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000163800 1001_ $$aLi, Yilong$$b0
000163800 245__ $$aPatterns of somatic structural variation in human cancer genomes.
000163800 260__ $$aLondon [u.a.]$$bNature Publ. Group52462$$c2020
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000163800 500__ $$asiehe Correction: DKFZ Autoren affiliiert im PCAWG Consortium: https://inrepo02.dkfz.de/record/265691   /   https://doi.org/10.1038/s41586-022-05597-x
000163800 520__ $$aA key mutational process in cancer is structural variation, in which rearrangements delete, amplify or reorder genomic segments that range in size from kilobases to whole chromosomes1-7. Here we develop methods to group, classify and describe somatic structural variants, using data from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumour types8. Sixteen signatures of structural variation emerged. Deletions have a multimodal size distribution, assort unevenly across tumour types and patients, are enriched in late-replicating regions and correlate with inversions. Tandem duplications also have a multimodal size distribution, but are enriched in early-replicating regions-as are unbalanced translocations. Replication-based mechanisms of rearrangement generate varied chromosomal structures with low-level copy-number gains and frequent inverted rearrangements. One prominent structure consists of 2-7 templates copied from distinct regions of the genome strung together within one locus. Such cycles of templated insertions correlate with tandem duplications, and-in liver cancer-frequently activate the telomerase gene TERT. A wide variety of rearrangement processes are active in cancer, which generate complex configurations of the genome upon which selection can act.
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000163800 650_7 $$0EC 2.7.7.49$$2NLM Chemicals$$aTERT protein, human
000163800 650_7 $$0EC 2.7.7.49$$2NLM Chemicals$$aTelomerase
000163800 650_2 $$2MeSH$$aGene Rearrangement: genetics
000163800 650_2 $$2MeSH$$aGenetic Variation
000163800 650_2 $$2MeSH$$aGenome, Human: genetics
000163800 650_2 $$2MeSH$$aGenomics
000163800 650_2 $$2MeSH$$aHumans
000163800 650_2 $$2MeSH$$aMutagenesis, Insertional
000163800 650_2 $$2MeSH$$aNeoplasms: genetics
000163800 650_2 $$2MeSH$$aTelomerase: genetics
000163800 7001_ $$aRoberts, Nicola D$$b1
000163800 7001_ $$aWala, Jeremiah A$$b2
000163800 7001_ $$aShapira, Ofer$$b3
000163800 7001_ $$aSchumacher, Steven E$$b4
000163800 7001_ $$aKumar, Kiran$$b5
000163800 7001_ $$aKhurana, Ekta$$b6
000163800 7001_ $$aWaszak, Sebastian$$b7
000163800 7001_ $$0P:(DE-HGF)0$$aKorbel, Jan O$$b8
000163800 7001_ $$aHaber, James E$$b9
000163800 7001_ $$aImielinski, Marcin$$b10
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000163800 7001_ $$aWeischenfeldt, Joachim$$b12
000163800 7001_ $$aBeroukhim, Rameen$$b13
000163800 7001_ $$aCampbell, Peter J$$b14
000163800 7001_ $$0P:(DE-HGF)0$$aPCAWGConsortium$$b15
000163800 773__ $$0PERI:(DE-600)1413423-8$$a10.1038/s41586-019-1913-9$$gVol. 578, no. 7793, p. 112 - 121$$n7793$$p112 - 121$$tNature <London>$$v578$$x1476-4687$$y2020
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