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The repertoire of mutational signatures in human cancer

Alexandrov, Ludmil B ; Kim, Jaegil ; Haradhvala, Nicholas J ; Huang, Mi Ni ; Tian Ng, Alvin Wei ; Wu, Yang ; Boot, Arnoud ; Covington, Kyle R ; Gordenin, Dmitry A ; Bergstrom, Erik N ; Islam, S M Ashiqul ; Lopez-Bigas, Nuria ; Klimczak, Leszek J ; McPherson, John R ; Morganella, Sandro ; Sabarinathan, Radhakrishnan ; Wheeler, David A ; Mustonen, Ville ; Getz, Gad ; Rozen, Steven G ; Stratton, Michael R

Nature (London), 2020-02, Vol.578 (7793), p.94-101 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
The repertoire of mutational signatures in human cancer
Autor: Alexandrov, Ludmil B ; Kim, Jaegil ; Haradhvala, Nicholas J ; Huang, Mi Ni ; Tian Ng, Alvin Wei ; Wu, Yang ; Boot, Arnoud ; Covington, Kyle R ; Gordenin, Dmitry A ; Bergstrom, Erik N ; Islam, S M Ashiqul ; Lopez-Bigas, Nuria ; Klimczak, Leszek J ; McPherson, John R ; Morganella, Sandro ; Sabarinathan, Radhakrishnan ; Wheeler, David A ; Mustonen, Ville ; Getz, Gad ; Rozen, Steven G ; Stratton, Michael R
Assuntos: Age Factors ; Base Sequence ; Basic Medicine ; Cancer ; Comparative analysis ; Consortia ; Deoxyribonucleic acid ; Development and progression ; DNA ; DNA damage ; DNA repair ; Exome - genetics ; Gene deletion ; Gene mutations ; Gene sequencing ; Genetic aspects ; Genome, Human - genetics ; Genomes ; Genomics ; Health aspects ; Humans ; Identification and classification ; Insertion ; Medical and Health Sciences ; Medical Genetics ; Medicin och hälsovetenskap ; Medicinsk genetik ; Medicinska och farmaceutiska grundvetenskaper ; Mutation ; Mutation - genetics ; Neoplasms - genetics ; Sequence Analysis, DNA ; Signatures ; Substitutes ; Tumors
É parte de: Nature (London), 2020-02, Vol.578 (7793), p.94-101
Descrição: Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature . 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 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 analyses , 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.
Editor: England: Nature Publishing Group
Idioma: Inglês

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The repertoire of mutational signatures in human cancer

England: Nature Publishing Group

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