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The repertoire of m...
The repertoire of mutational signatures in human cancer
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- Alexandrov, Ludmil B (författare)
- University of California, San Diego
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- Kim, Jaegil (författare)
- Broad Institute
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- Haradhvala, Nicholas J (författare)
- Broad Institute
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- Huang, Mi Ni (författare)
- Duke–NUS Medical School
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- Tian Ng, Alvin Wei (författare)
- Duke–NUS Medical School
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- Wu, Yang (författare)
- Duke–NUS Medical School
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- Boot, Arnoud (författare)
- Duke–NUS Medical School
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- Covington, Kyle R (författare)
- Baylor College of Medicine
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- Gordenin, Dmitry A (författare)
- National Institute of Environmental Health Sciences
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- Bergstrom, Erik N (författare)
- University of California System
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- Islam, S M Ashiqul (författare)
- University of California System
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- Lopez-Bigas, Nuria (författare)
- Barcelona Institute of Science and Technology
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- Klimczak, Leszek J (författare)
- National Institute of Environmental Health Sciences
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- McPherson, John R (författare)
- Duke–NUS Medical School
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- Morganella, Sandro (författare)
- Wellcome Trust Sanger Institute
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- Sabarinathan, Radhakrishnan (författare)
- Research Program on Biomedical Informatics
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- Wheeler, David A (författare)
- Baylor College of Medicine
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- Mustonen, Ville (författare)
- University of Helsinki
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- Getz, Gad (författare)
- Broad Institute
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- Rozen, Steven G (författare)
- Duke–NUS Medical School
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- Stratton, Michael R (författare)
- Wellcome Trust Sanger Institute
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- Borg, Åke (creator_code:cre_t)
- Lund 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
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- Ringnér, Markus (creator_code:cre_t)
- Lund University,Lunds universitet,Molekylär cellbiologi,Biologiska institutionen,Naturvetenskapliga fakulteten,Molecular Cell Biology,Department of Biology,Faculty of Science
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- Staaf, Johan (creator_code:cre_t)
- Lund 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
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- 2020-02-05
- 2020
- Engelska.
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 578:7793, s. 94-101
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Abstract
Ämnesord
Stäng
- 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 analyses3-15, 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Age Factors
- Base Sequence
- Exome/genetics
- Genome, Human/genetics
- Humans
- Mutation/genetics
- Neoplasms/genetics
- Sequence Analysis, DNA
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Nature
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Alexandrov, Ludm ...
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Kim, Jaegil
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Haradhvala, Nich ...
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Huang, Mi Ni
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Tian Ng, Alvin W ...
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Wu, Yang
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visa fler...
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Boot, Arnoud
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Covington, Kyle ...
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Gordenin, Dmitry ...
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Bergstrom, Erik ...
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Islam, S M Ashiq ...
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Lopez-Bigas, Nur ...
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Klimczak, Leszek ...
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McPherson, John ...
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Morganella, Sand ...
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Sabarinathan, Ra ...
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Wheeler, David A
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Mustonen, Ville
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Getz, Gad
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Rozen, Steven G
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Stratton, Michae ...
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Borg, Åke
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Ringnér, Markus
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Staaf, Johan
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- MEDICIN OCH HÄLSOVETENSKAP
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Lunds universitet
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