Pan-cancer analysis of whole genomes

Mostra el registre complet Registre parcial de l'ítem

• dc.contributor.author ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
• dc.contributor.author Demidov, German, 1990-
• dc.contributor.author Drechsel, Oliver
• dc.contributor.author Ossowski, Stephan
• dc.contributor.author Estivill, Xavier, 1955-
• dc.contributor.author Escaramís, Geòrgia
• dc.contributor.author Bosio, Mattia
• dc.contributor.author Holik, Aliaksei Z.
• dc.contributor.author Sušak, Hana, 1985-
• dc.contributor.author Rabionet, Raquel
• dc.contributor.author Stobbe, Miranda D.
• dc.contributor.author Marquès i Bonet, Tomàs, 1975-
• dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-
• dc.contributor.author Gut, Ivo Glynne
• dc.contributor.author Beltran, Sergi
• dc.contributor.author Gut, Marta
• dc.contributor.author Trotta, Jean-Remi
• dc.contributor.author Whalley, Justin P.
• dc.contributor.author Heath, Simon
• dc.contributor.author Prasad, Aparna
• dc.contributor.author Heredia Genestar, José María, 1985-
• dc.contributor.author Sabarinathan, Radhakrishnan
• dc.contributor.author Pich, Oriol
• dc.contributor.author Gonzalez-Perez, Abel
• dc.contributor.author Rubio Pérez, Carlota, 1990-
• dc.contributor.author Tamborero Noguera, David
• dc.contributor.author Mularoni, Loris
• dc.contributor.author Deu-Pons, Jordi
• dc.contributor.author Muiños, Ferran
• dc.contributor.author Muyas Remolar, Francesc, 1992-
• dc.date.accessioned 2020-04-17T07:01:12Z
• dc.date.available 2020-04-17T07:01:12Z
• dc.date.issued 2020
• dc.description.abstract Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale . 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; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation; analyses timings and patterns of tumour evolution; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity; and evaluates a range of more-specialized features of cancer genomes.
• dc.format.mimetype application/pdf
• dc.identifier.citation ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. Pan-cancer analysis of whole genomes. Nature. 2020 Feb; 578(7793): 82-93. DOI: 10.1038/s41586-020-1969-6
• dc.identifier.doi http://dx.doi.org/10.1038/s41586-020-1969-6
• dc.identifier.issn 0028-0836
• dc.identifier.uri http://hdl.handle.net/10230/44263
• dc.language.iso eng
• dc.publisher Nature Research
• dc.relation.ispartof Nature. 2020 Feb;578(7793):82-93
• dc.rights © 2020 German M. Deminov et al. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.other Càncer
• dc.subject.other Genòmica
• dc.subject.other Genètica
• dc.title Pan-cancer analysis of whole genomes
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion