The repertoire of mutational signatures in human cancer

  1. Alexandrov, Ludmil B.
  2. Kim, Jaegil
  3. Haradhvala, Nicholas J.
  4. Huang, Mi Ni
  5. Ng, Alvin Wei Tian
  6. Wu, Yang
  7. Boot, Arnoud
  8. Covington, Kyle R.
  9. Gordenin, Dmitry A.
  10. Bergstrom, Erik N.
  11. Islam, S. M. Ashiqul
  12. Lopez-Bigas, Nuria
  13. Klimczak, Leszek J.
  14. McPherson, John R.
  15. Morganella, Sandro
  16. Sabarinathan, Radhakrishnan
  17. Wheeler, David A.
  18. Mustonen, Ville
  19. Getz, Gad
  20. Rozen, Steven G.
  21. Stratton, Michael R.
  22. PCAWG Mutational Signatures Working Group
  23. PCAWG Consortium

Download
s41586-020-1943-3.pdf 6,74MB
WeightNameValue
1000 Titel
  • The repertoire of mutational signatures in human cancer
1000 Autor/in
  1. Alexandrov, Ludmil B. |
  2. Kim, Jaegil |
  3. Haradhvala, Nicholas J. |
  4. Huang, Mi Ni |
  5. Ng, Alvin Wei Tian |
  6. Wu, Yang |
  7. Boot, Arnoud |
  8. Covington, Kyle R. |
  9. Gordenin, Dmitry A. |
  10. Bergstrom, Erik N. |
  11. Islam, S. M. Ashiqul |
  12. Lopez-Bigas, Nuria |
  13. Klimczak, Leszek J. |
  14. McPherson, John R. |
  15. Morganella, Sandro |
  16. Sabarinathan, Radhakrishnan |
  17. Wheeler, David A. |
  18. Mustonen, Ville |
  19. Getz, Gad |
  20. Rozen, Steven G. |
  21. Stratton, Michael R. |
1000 Mitwirkende/r
  1. PCAWG Mutational Signatures Working Group |
  2. PCAWG Consortium |
1000 Erscheinungsjahr 2020
1000 LeibnizOpen
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2020-02-05
1000 Erschienen in
1000 Quellenangabe
  • 578(7793):94-101
1000 FRL-Sammlung
1000 Copyrightjahr
  • 2020
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1038/s41586-020-1943-3 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054213/ |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature1. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium2 of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we characterized mutational signatures using 84,729,690 somatic mutations from 4,645 whole-genome and 19,184 exome sequences that encompass most types of cancer. We identified 49 single-base-substitution, 11 doublet-base-substitution, 4 clustered-base-substitution and 17 small insertion-and-deletion signatures. The substantial size of our dataset, compared with previous analyses3,4,5,6,7,8,9,10,11,12,13,14,15, enabled the discovery of new signatures, the separation of overlapping signatures and the decomposition of signatures into components that may represent associated—but distinct—DNA damage, repair and/or replication mechanisms. By estimating the contribution of each signature to the mutational catalogues of individual cancer genomes, we revealed associations of signatures to exogenous or endogenous exposures, as well as to defective DNA-maintenance processes. However, many signatures are of unknown cause. This analysis provides a systematic perspective on the repertoire of mutational processes that contribute to the development of human cancer.
1000 Sacherschließung
lokal Mutation/genetics [MeSH]
lokal Genome, Human/genetics [MeSH]
lokal Age Factors [MeSH]
lokal Humans [MeSH]
lokal Sequence Analysis, DNA [MeSH]
lokal Base Sequence [MeSH]
lokal Neoplasms/genetics [MeSH]
lokal Exome/genetics [MeSH]
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://frl.publisso.de/adhoc/uri/QWxleGFuZHJvdiwgTHVkbWlsIEIu|https://frl.publisso.de/adhoc/uri/S2ltLCBKYWVnaWw=|https://frl.publisso.de/adhoc/uri/SGFyYWRodmFsYSwgTmljaG9sYXMgSi4=|https://frl.publisso.de/adhoc/uri/SHVhbmcsIE1pIE5p|https://frl.publisso.de/adhoc/uri/TmcsIEFsdmluIFdlaSBUaWFu|https://frl.publisso.de/adhoc/uri/V3UsIFlhbmc=|https://frl.publisso.de/adhoc/uri/Qm9vdCwgQXJub3Vk|https://frl.publisso.de/adhoc/uri/Q292aW5ndG9uLCBLeWxlIFIu|https://frl.publisso.de/adhoc/uri/R29yZGVuaW4sIERtaXRyeSBBLg==|https://frl.publisso.de/adhoc/uri/QmVyZ3N0cm9tLCBFcmlrIE4u|https://frl.publisso.de/adhoc/uri/SXNsYW0sIFMuIE0uIEFzaGlxdWw=|https://frl.publisso.de/adhoc/uri/TG9wZXotQmlnYXMsIE51cmlh|https://frl.publisso.de/adhoc/uri/S2xpbWN6YWssIExlc3playBKLg==|https://frl.publisso.de/adhoc/uri/TWNQaGVyc29uLCBKb2huIFIu|https://frl.publisso.de/adhoc/uri/TW9yZ2FuZWxsYSwgU2FuZHJv|https://frl.publisso.de/adhoc/uri/U2FiYXJpbmF0aGFuLCBSYWRoYWtyaXNobmFuIA==|https://frl.publisso.de/adhoc/uri/V2hlZWxlciwgRGF2aWQgQS4=|https://frl.publisso.de/adhoc/uri/TXVzdG9uZW4sIFZpbGxl|https://frl.publisso.de/adhoc/uri/R2V0eiwgR2Fk|https://frl.publisso.de/adhoc/uri/Um96ZW4sIFN0ZXZlbiBHLg==|https://frl.publisso.de/adhoc/uri/U3RyYXR0b24sIE1pY2hhZWwgUi4=|https://frl.publisso.de/adhoc/uri/UENBV0cgTXV0YXRpb25hbCBTaWduYXR1cmVzIFdvcmtpbmcgR3JvdXA=|https://frl.publisso.de/adhoc/uri/UENBV0cgQ29uc29ydGl1bQ==
1000 Hinweis
  • metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
1000 Label
1000 Fördernummer
  1. -
1000 Förderprogramm
  1. -
1000 Dateien
  1. The repertoire of mutational signatures in human cancer
    The repertoire of mutational signatures in human cancer
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6475659.rdf
1000 Erstellt am 2024-05-08T09:28:04.672+0200
1000 Erstellt von 336
1000 beschreibt frl:6475659
1000 Bearbeitet von 317
1000 Zuletzt bearbeitet 2024-06-17T09:37:23.579+0200
1000 Objekt bearb. Mon Jun 17 09:37:12 CEST 2024
1000 Vgl. frl:6475659
1000 Oai Id
  1. oai:frl.publisso.de:frl:6475659 |
1000 Sichtbarkeit Metadaten public
1000 Sichtbarkeit Daten public
1000 Gegenstand von

View source