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  • Li, YLWellcome Trust Sanger Institute (author)

Patterns of somatic structural variation in human cancer genomes

  • Article/chapterEnglish2020

Publisher, publication year, extent ...

  • 2020-02-05
  • Springer Science and Business Media LLC,2020

Numbers

  • LIBRIS-ID:oai:prod.swepub.kib.ki.se:143680110
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:143680110URI
  • https://doi.org/10.1038/s41586-019-1913-9DOI
  • https://lup.lub.lu.se/record/5ad43c7f-63e9-4e76-bae5-7ba7012fa3dfURI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Roberts, NDWellcome Trust Sanger Institute (author)
  • Wala, JABroad Institute (author)
  • Shapira, OBroad Institute (author)
  • Schumacher, SEBroad Institute (author)
  • Kumar, KBroad Institute (author)
  • Khurana, EWeill Cornell Medical College, Qatar (author)
  • Waszak, SEuropean Molecular Biology Laboratory Heidelberg (author)
  • Korbel, JOEuropean Molecular Biology Laboratory Heidelberg (author)
  • Haber, JEBrandeis University (author)
  • Imielinski, MNew York Genome Center (NYCG) (author)
  • Weischenfeldt, JUniversity of Copenhagen: Copenhagen School of Global Health (author)
  • Beroukhim, RBroad Institute (author)
  • Campbell, PJWellcome Trust Sanger Institute (author)
  • Akdemir, KC (author)
  • Alvarez, EG (author)
  • Baez-Ortega, A (author)
  • Boutros, PC (author)
  • Bowtell, DDL (author)
  • Brors, B (author)
  • Burns, KH (author)
  • Chan, K (author)
  • Chen, K (author)
  • Cortes-Ciriano, I (author)
  • Dueso-Barroso, A (author)
  • Dunford, AJ (author)
  • Edwards, PA (author)
  • Estivill, X (author)
  • Etemadmoghadam, D (author)
  • Feuerbach, L (author)
  • Fink, JL (author)
  • Frenkel-Morgenstern, M (author)
  • Garsed, DW (author)
  • Gerstein, M (author)
  • Gordenin, DA (author)
  • Haan, D (author)
  • Hess, JM (author)
  • Hutter, B (author)
  • Jones, DTW (author)
  • Ju, YS (author)
  • Kazanov, MD (author)
  • Klimczak, LJ (author)
  • Koh, Y (author)
  • Lee, EA (author)
  • Lee, JJK (author)
  • Lynch, AG (author)
  • Macintyre, G (author)
  • Markowetz, F (author)
  • Martincorena, I (author)
  • Martinez-Fundichely, A (author)
  • Meyerson, M (author)
  • Miyano, S (author)
  • Nakagawa, H (author)
  • Navarro, FCP (author)
  • Ossowski, S (author)
  • Park, PJ (author)
  • Pearson, J (author)
  • Puiggros, M (author)
  • Rippe, K (author)
  • Roberts, SA (author)
  • Rodriguez-Martin, B (author)
  • Scully, R (author)
  • Shackleton, M (author)
  • Sidiropoulos, N (author)
  • Sieverling, L (author)
  • Stewart, C (author)
  • Torrents, D (author)
  • Tubio, JMC (author)
  • Villasante, I (author)
  • Waddell, N (author)
  • Yang, LX (author)
  • Yao, XT (author)
  • Yoon, SS (author)
  • Zamora, J (author)
  • Zhang, CZ (author)
  • Borg, ÅkeLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)onk-abo (creator_code:cre_t)
  • Ringnér, MarkusLund University,Lunds universitet,Molekylär cellbiologi,Biologiska institutionen,Naturvetenskapliga fakulteten,Molecular Cell Biology,Department of Biology,Faculty of Science(Swepub:lu)thep-mri (creator_code:cre_t)
  • Staaf, JohanLund University,Lunds universitet,Avdelningen för translationell cancerforskning,Institutionen för laboratoriemedicin,Medicinska fakulteten,Forskningsgrupp Lungcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Bröst/lungcancer,Sektion I,Institutionen för kliniska vetenskaper, Lund,Division of Translational Cancer Research,Department of Laboratory Medicine,Faculty of Medicine,Research Group Lung Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Breast/lungcancer,Section I,Department of Clinical Sciences, Lund(Swepub:lu)onk-jst (creator_code:cre_t)
  • Wellcome Trust Sanger InstituteBroad Institute (creator_code:org_t)
  • PCAWG Consortium

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