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| 024 | 7 | _ | |a 10.1038/s41586-019-1913-9 |2 doi |
| 024 | 7 | _ | |a pmid:32025012 |2 pmid |
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| 024 | 7 | _ | |a 0028-0836 |2 ISSN |
| 024 | 7 | _ | |a 1476-4687 |2 ISSN |
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| 037 | _ | _ | |a DKFZ-2020-02053 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 500 |
| 100 | 1 | _ | |a Li, Yilong |b 0 |
| 245 | _ | _ | |a Patterns of somatic structural variation in human cancer genomes. |
| 260 | _ | _ | |a London [u.a.] |c 2020 |b Nature Publ. Group52462 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1710945228_17309 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a siehe Correction: DKFZ Autoren affiliiert im PCAWG Consortium: https://inrepo02.dkfz.de/record/265691 / https://doi.org/10.1038/s41586-022-05597-x |
| 520 | _ | _ | |a A 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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| 650 | _ | 7 | |a TERT protein, human |0 EC 2.7.7.49 |2 NLM Chemicals |
| 650 | _ | 7 | |a Telomerase |0 EC 2.7.7.49 |2 NLM Chemicals |
| 650 | _ | 2 | |a Gene Rearrangement: genetics |2 MeSH |
| 650 | _ | 2 | |a Genetic Variation |2 MeSH |
| 650 | _ | 2 | |a Genome, Human: genetics |2 MeSH |
| 650 | _ | 2 | |a Genomics |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Mutagenesis, Insertional |2 MeSH |
| 650 | _ | 2 | |a Neoplasms: genetics |2 MeSH |
| 650 | _ | 2 | |a Telomerase: genetics |2 MeSH |
| 700 | 1 | _ | |a Roberts, Nicola D |b 1 |
| 700 | 1 | _ | |a Wala, Jeremiah A |b 2 |
| 700 | 1 | _ | |a Shapira, Ofer |b 3 |
| 700 | 1 | _ | |a Schumacher, Steven E |b 4 |
| 700 | 1 | _ | |a Kumar, Kiran |b 5 |
| 700 | 1 | _ | |a Khurana, Ekta |b 6 |
| 700 | 1 | _ | |a Waszak, Sebastian |b 7 |
| 700 | 1 | _ | |a Korbel, Jan O |0 P:(DE-HGF)0 |b 8 |
| 700 | 1 | _ | |a Haber, James E |b 9 |
| 700 | 1 | _ | |a Imielinski, Marcin |b 10 |
| 700 | 1 | _ | |a PCAWGStructuralVariationWorkingGroup |0 P:(DE-HGF)0 |b 11 |
| 700 | 1 | _ | |a Weischenfeldt, Joachim |b 12 |
| 700 | 1 | _ | |a Beroukhim, Rameen |b 13 |
| 700 | 1 | _ | |a Campbell, Peter J |b 14 |
| 700 | 1 | _ | |a PCAWGConsortium |0 P:(DE-HGF)0 |b 15 |
| 773 | _ | _ | |a 10.1038/s41586-019-1913-9 |g Vol. 578, no. 7793, p. 112 - 121 |0 PERI:(DE-600)1413423-8 |n 7793 |p 112 - 121 |t Nature |v 578 |y 2020 |x 1476-4687 |
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