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DOI | 10.1038/s41586-019-1913-9 |
Patterns of somatic structural variation in human cancer genomes | |
Wan, Liling1,16; Chong, Shasha2,3; Xuan, Fan4; Liang, Angela1; Cui, Xiaodong5,6; Gates, Leah1; Carroll, Thomas S.7; Li, Yuanyuan8; Feng, Lijuan1; Chen, Guochao8; Wang, Shu-Ping9,10; Ortiz, Michael V.11; Daley, Sara K.12; Wang, Xiaolu4; Xuan, Hongwen4; Kentsis, Alex11,13; Muir, Tom W.12; Roeder, Robert G.; Li, Haitao8; Li, Wei5,6,14; Tjian, Robert2,3,15; Wen, Hong4; Allis, C. David1 | |
2020-01-02 | |
发表期刊 | NATURE |
ISSN | 0028-0836 |
EISSN | 1476-4687 |
出版年 | 2020 |
卷号 | 578期号:7793页码:112-+ |
文章类型 | Article |
语种 | 英语 |
国家 | England; USA; Germany; Denmark; Spain; Canada; Australia; Qatar; Israel; South Korea; Russia; Scotland; Japan |
英文关键词 | 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 chromosomes(1-7). 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 types(8). 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 cancerfrequently 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. |
领域 | 地球科学 ; 气候变化 ; 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000529097800010 |
WOS关键词 | PAIRED-END ; REARRANGEMENTS ; CHROMOTHRIPSIS ; INSTABILITY ; MUTATIONS ; LANDSCAPE ; MECHANISM |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/280940 |
专题 | 地球科学 资源环境科学 气候变化 |
作者单位 | 1.Rockefeller Univ, Lab Chromatin Biol & Epigenet, 1230 York Ave, New York, NY 10021 USA; 2.Univ Calif Berkeley, Dept Mol & Cell Biol, 229 Stanley Hall, Berkeley, CA 94720 USA; 3.Univ Calif Berkeley, Howard Hughes Med Inst, Berkeley, CA 94720 USA; 4.Van Andel Inst, Ctr Epigenet, Grand Rapids, MI 49546 USA; 5.Baylor Coll Med, Div Biostat, Dan L Duncan Canc Ctr, Houston, TX 77030 USA; 6.Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA; 7.Rockefeller Univ, Bioinformat Core, 1230 York Ave, New York, NY 10021 USA; 8.Tsinghua Univ, Sch Med, Dept Basic Med Sci, Beijing Adv Innovat Ctr Struct Biol,MOE Key Lab P, Beijing, Peoples R China; 9.Rockefeller Univ, Lab Biochem & Mol Biol, 1230 York Ave, New York, NY 10021 USA; 10.Acad Sinica, Inst Biomed Sci, Taipei, Taiwan; 11.Mem Sloan Kettering Canc Ctr, Dept Pediat, 1275 York Ave, New York, NY 10021 USA; 12.Princeton Univ, Dept Chem, Princeton, NJ 08544 USA; 13.Mem Sloan Kettering Canc Ctr, Mol Pharmacol Program, Sloan Kettering Inst, 1275 York Ave, New York, NY 10021 USA; 14.Univ Calif Irvine, Dept Biol Chem, Irvine, CA 92717 USA; 15.Univ Calif Berkeley, CIRM Ctr Excellence, Berkeley, CA 94720 USA; 16.Univ Penn, Dept Canc Biol, Perelman Sch Med, Philadelphia, PA 19104 USA |
推荐引用方式 GB/T 7714 | Wan, Liling,Chong, Shasha,Xuan, Fan,et al. Patterns of somatic structural variation in human cancer genomes[J]. NATURE,2020,578(7793):112-+. |
APA | Wan, Liling.,Chong, Shasha.,Xuan, Fan.,Liang, Angela.,Cui, Xiaodong.,...&Allis, C. David.(2020).Patterns of somatic structural variation in human cancer genomes.NATURE,578(7793),112-+. |
MLA | Wan, Liling,et al."Patterns of somatic structural variation in human cancer genomes".NATURE 578.7793(2020):112-+. |
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