Pan-cancer analysis of whole genomes

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1,2,3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types fr...

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Autores: ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Rabionet Janssen, Raquel, Gelpí Buchaca, Josep Lluís, Aymerich, Marta, López Guillermo, Armando, Campo Güerri, Elias, Estivill, Xavier, 1955-, Escaramís Babiano, Geòrgia, Martín-Subero, José Ignacio
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2020
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositório:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/162994
Acesso em linha:https://hdl.handle.net/2445/162994
Access Level:Acceso aberto
Palavra-chave:Càncer
Genètica
Cancer
Genetics
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spelling Pan-cancer analysis of whole genomesICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumRabionet Janssen, RaquelGelpí Buchaca, Josep LluísAymerich, MartaLópez Guillermo, ArmandoCampo Güerri, EliasEstivill, Xavier, 1955-Escaramís Babiano, GeòrgiaMartín-Subero, José IgnacioCàncerGenèticaCancerGeneticsCancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1,2,3. 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 promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10,11,12,13,14,15,16,17,18.Nature Publishing Group2020202020202020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion50 p.application/pdfhttps://hdl.handle.net/2445/162994Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1038/s41586-020-1969-6Nature, 2020, vol. 578, num. 7793, p. 82-93https://doi.org/10.1038/s41586-020-1969-6cc by (c) Rabionet Janssen et al., 2020http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1629942026-05-29T05:05:01Z
dc.title.none.fl_str_mv Pan-cancer analysis of whole genomes
title Pan-cancer analysis of whole genomes
spellingShingle Pan-cancer analysis of whole genomes
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
Càncer
Genètica
Cancer
Genetics
title_short Pan-cancer analysis of whole genomes
title_full Pan-cancer analysis of whole genomes
title_fullStr Pan-cancer analysis of whole genomes
title_full_unstemmed Pan-cancer analysis of whole genomes
title_sort Pan-cancer analysis of whole genomes
dc.creator.none.fl_str_mv ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
Rabionet Janssen, Raquel
Gelpí Buchaca, Josep Lluís
Aymerich, Marta
López Guillermo, Armando
Campo Güerri, Elias
Estivill, Xavier, 1955-
Escaramís Babiano, Geòrgia
Martín-Subero, José Ignacio
author ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
author_facet ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
Rabionet Janssen, Raquel
Gelpí Buchaca, Josep Lluís
Aymerich, Marta
López Guillermo, Armando
Campo Güerri, Elias
Estivill, Xavier, 1955-
Escaramís Babiano, Geòrgia
Martín-Subero, José Ignacio
author_role author
author2 Rabionet Janssen, Raquel
Gelpí Buchaca, Josep Lluís
Aymerich, Marta
López Guillermo, Armando
Campo Güerri, Elias
Estivill, Xavier, 1955-
Escaramís Babiano, Geòrgia
Martín-Subero, José Ignacio
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Càncer
Genètica
Cancer
Genetics
topic Càncer
Genètica
Cancer
Genetics
description Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1,2,3. 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 promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10,11,12,13,14,15,16,17,18.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020
2020
2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/162994
url https://hdl.handle.net/2445/162994
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1038/s41586-020-1969-6
Nature, 2020, vol. 578, num. 7793, p. 82-93
https://doi.org/10.1038/s41586-020-1969-6
dc.rights.none.fl_str_mv cc by (c) Rabionet Janssen et al., 2020
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Rabionet Janssen et al., 2020
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 50 p.
application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv Articles publicats en revistes (Genètica, Microbiologia i Estadística)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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