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  • Cortes-Ciriano, IHarvard Medical School (author)

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

  • 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:142920554
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:142920554URI
  • https://doi.org/10.1038/s41588-019-0576-7DOI
  • https://lup.lub.lu.se/record/001f1f29-5b74-4503-961a-7b262cd2ca86URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

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

Notes

  • Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothripsis across 2,658 tumors from 38 cancer types using whole-genome sequencing data. We find that chromothripsis events are pervasive across cancers, with a frequency of more than 50% in several cancer types. Whereas canonical chromothripsis profiles display oscillations between two copy-number states, a considerable fraction of events involve multiple chromosomes and additional structural alterations. In addition to non-homologous end joining, we detect signatures of replication-associated processes and templated insertions. Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. These findings show that chromothripsis is a major process that drives genome evolution in human cancer.

Subject headings and genre

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

  • Lee, JJKHarvard Medical School (author)
  • Xi, RBPeking University Cancer Hospital (author)
  • Jain, DHarvard Medical School (author)
  • Jung, YLHarvard Medical School,Loyola University Chicago (author)
  • Yang, LX (author)
  • Gordenin, DNational Human Genome Research Institute (author)
  • Klimczak, LJNational Human Genome Research Institute (author)
  • Zhang, CZBroad Institute (author)
  • Pellman, DSDana-Farber Cancer Institute (author)
  • Park, PJHarvard Medical School (author)
  • Akdemir, KC (author)
  • Alvarez, EG (author)
  • Baez-Ortega, A (author)
  • Beroukhim, R (author)
  • Boutros, PC (author)
  • Bowtell, DDL (author)
  • Brors, B (author)
  • Burns, KH (author)
  • Campbell, PJ (author)
  • Chan, K (author)
  • Chen, K (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)
  • Haber, JE (author)
  • Hess, JM (author)
  • Hutter, B (author)
  • Imielinski, M (author)
  • Jones, DTW (author)
  • Ju, YS (author)
  • Kazanov, MD (author)
  • Koh, Y (author)
  • Korbel, JO (author)
  • Kumar, K (author)
  • Lee, EA (author)
  • Li, YL (author)
  • Lynch, AG (author)
  • Macintyre, G (author)
  • Markowetz, F (author)
  • Martincorena, I (author)
  • Martinez-Fundichely, A (author)
  • Miyano, S (author)
  • Nakagawa, H (author)
  • Navarro, FCP (author)
  • Ossowski, S (author)
  • Pearson, J (author)
  • Puiggros, M (author)
  • Rippe, K (author)
  • Roberts, ND (author)
  • Roberts, SA (author)
  • Rodriguez-Martin, B (author)
  • Schumacher, SE (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)
  • Wala, JA (author)
  • Weischenfeldt, J (author)
  • Yao, XT (author)
  • Yoon, SS (author)
  • Zamora, J (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)
  • Harvard Medical SchoolPeking University Cancer Hospital (creator_code:org_t)
  • PCAWG-Structural Variation Working Group

Related titles

  • In:Nature genetics: Springer Science and Business Media LLC52:3, s. 331-+1546-17181061-4036

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