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dc.contributor.authorICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
dc.date.accessioned2020-07-09T12:15:42Z
dc.date.issued2020-02-05
dc.identifier.citationNature, 2020, 578 (7793), pp. 82 - 93
dc.identifier.issn0028-0836
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3841
dc.identifier.eissn1476-4687
dc.identifier.doi10.1038/s41586-020-1969-6
dc.description.abstractCancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale 1-3 . Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter 4 ; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation 5,6 ; analyses timings and patterns of tumour evolution 7 ; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity 8,9 ; and evaluates a range of more-specialized features of cancer genomes 8,10-18 .
dc.formatPrint-Electronic
dc.format.extent82 - 93
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
dc.subjectTelomere
dc.subjectHumans
dc.subjectNeoplasms
dc.subjectTelomerase
dc.subjectReproducibility of Results
dc.subjectDNA Mutational Analysis
dc.subjectInformation Dissemination
dc.subjectGenomics
dc.subjectEvolution, Molecular
dc.subjectCell Proliferation
dc.subjectRNA Splicing
dc.subjectMutagenesis
dc.subjectMutation
dc.subjectGerm-Line Mutation
dc.subjectOncogenes
dc.subjectGenome, Human
dc.subjectFemale
dc.subjectMale
dc.subjectPromoter Regions, Genetic
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectCloud Computing
dc.subjectChromothripsis
dc.subjectCellular Senescence
dc.titlePan-cancer analysis of whole genomes.
dc.typeJournal Article
dcterms.dateAccepted2019-12-11
rioxxterms.versionofrecord10.1038/s41586-020-1969-6
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2020-02-05
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfNature
pubs.issue7793
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Stereotactic and Precision Body Radiotherapy
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Stereotactic and Precision Body Radiotherapy/Stereotactic and Precision Body Radiotherapy (hon.)
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Stereotactic and Precision Body Radiotherapy
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Stereotactic and Precision Body Radiotherapy/Stereotactic and Precision Body Radiotherapy (hon.)
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.publication-statusPublished
pubs.volume578
pubs.embargo.termsNot known
icr.researchteamOncogeneticsen_US
icr.researchteamStereotactic and Precision Body Radiotherapyen_US
dc.contributor.icrauthorHaider, Syeden
dc.contributor.icrauthorEeles, Rosalinden
dc.contributor.icrauthorKote-Jarai, Zsofiaen
dc.contributor.icrauthorFisher, Cyrilen
dc.contributor.icrauthorKumar, Pardeepen
dc.contributor.icrauthorvan As, Nicken
dc.contributor.icrauthorTutt, Andrewen


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