The repertoire of mutational signatures in human cancer
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Résumé
Abstract Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature 1 . Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium 2 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 3–15 , 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.
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La notice
- Revue
- Nature
- Thématique
- Cancer Genomics and Diagnostics
- Domaine
- Biochemistry, Genetics and Molecular Biology
- Établissements canadiens
- SickKids FoundationBC Cancer AgencyUniversity of British ColumbiaProstate Cancer CanadaUniversité de MontréalHospital for Sick ChildrenSimon Fraser UniversityUniversity of OttawaMcGill UniversityLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalPrincess Margaret Cancer CentreUniversity of CalgaryMcGill University and Génome Québec Innovation CentreToronto General HospitalUniversity of TorontoUniversity Health NetworkGenome CanadaCanada's Michael Smith Genome Sciences CentreVector InstituteInstitute of Cancer ResearchOntario Institute for Cancer Research
- Organismes subventionnaires
- National Medical Research CouncilNational Institute of General Medical SciencesMedical Research CouncilDuke-NUS Medical SchoolNational Cancer InstituteNational Institutes of HealthCancer Research UKBroad InstituteWellcome TrustMassachusetts General Hospital
- Mots-clés
- Somatic cellGeneticsBiologyGenomeCancerRepertoireMutationComputational biologyHuman genomeEvolutionary biologyGene
- Résumé présent dans OpenAlex
- oui