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 scale . Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from t...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2020 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:recercat.cat:10230/44263 |
| Acceso en línea: | http://hdl.handle.net/10230/44263 http://dx.doi.org/10.1038/s41586-020-1969-6 |
| Access Level: | acceso abierto |
| Palabra clave: | Càncer Genòmica Genètica |
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Pan-cancer analysis of whole genomesICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumDemidov, German, 1990-Drechsel, OliverOssowski, StephanEstivill, Xavier, 1955-Escaramís, GeòrgiaBosio, MattiaHolik, Aliaksei Z.Sušak, Hana, 1985-Rabionet Janssen, RaquelStobbe, Miranda D.Marquès i Bonet, Tomàs, 1975-Navarro i Cuartiellas, Arcadi, 1969-Gut, Ivo GlynneBeltran, SergiGut, MartaTrotta, Jean-RemiWhalley, Justin P.Heath, SimonPrasad, AparnaHeredia Genestar, José María, 1985-Sabarinathan, RadhakrishnanPich Roselló, Oriol, 1992-Gonzalez-Perez, AbelRubio Pérez, Carlota, 1990-Tamborero Noguera, DavidMularoni, LorisDeu-Pons, JordiMuiños, FerranMuyas Remolar, Francesc, 1992-CàncerGenòmicaGenèticaCancer 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.Nature Research202020202020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/44263http://dx.doi.org/10.1038/s41586-020-1969-6reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésNature. 2020 Feb;578(7793):82-93© 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 madehttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/442632026-05-29T05:05:01Z |
| 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 Genòmica Genètica |
| 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 Demidov, German, 1990- Drechsel, Oliver Ossowski, Stephan Estivill, Xavier, 1955- Escaramís, Geòrgia Bosio, Mattia Holik, Aliaksei Z. Sušak, Hana, 1985- Rabionet Janssen, Raquel Stobbe, Miranda D. Marquès i Bonet, Tomàs, 1975- Navarro i Cuartiellas, Arcadi, 1969- Gut, Ivo Glynne Beltran, Sergi Gut, Marta Trotta, Jean-Remi Whalley, Justin P. Heath, Simon Prasad, Aparna Heredia Genestar, José María, 1985- Sabarinathan, Radhakrishnan Pich Roselló, Oriol, 1992- Gonzalez-Perez, Abel Rubio Pérez, Carlota, 1990- Tamborero Noguera, David Mularoni, Loris Deu-Pons, Jordi Muiños, Ferran Muyas Remolar, Francesc, 1992- |
| author |
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium |
| author_facet |
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium Demidov, German, 1990- Drechsel, Oliver Ossowski, Stephan Estivill, Xavier, 1955- Escaramís, Geòrgia Bosio, Mattia Holik, Aliaksei Z. Sušak, Hana, 1985- Rabionet Janssen, Raquel Stobbe, Miranda D. Marquès i Bonet, Tomàs, 1975- Navarro i Cuartiellas, Arcadi, 1969- Gut, Ivo Glynne Beltran, Sergi Gut, Marta Trotta, Jean-Remi Whalley, Justin P. Heath, Simon Prasad, Aparna Heredia Genestar, José María, 1985- Sabarinathan, Radhakrishnan Pich Roselló, Oriol, 1992- Gonzalez-Perez, Abel Rubio Pérez, Carlota, 1990- Tamborero Noguera, David Mularoni, Loris Deu-Pons, Jordi Muiños, Ferran Muyas Remolar, Francesc, 1992- |
| author_role |
author |
| author2 |
Demidov, German, 1990- Drechsel, Oliver Ossowski, Stephan Estivill, Xavier, 1955- Escaramís, Geòrgia Bosio, Mattia Holik, Aliaksei Z. Sušak, Hana, 1985- Rabionet Janssen, Raquel Stobbe, Miranda D. Marquès i Bonet, Tomàs, 1975- Navarro i Cuartiellas, Arcadi, 1969- Gut, Ivo Glynne Beltran, Sergi Gut, Marta Trotta, Jean-Remi Whalley, Justin P. Heath, Simon Prasad, Aparna Heredia Genestar, José María, 1985- Sabarinathan, Radhakrishnan Pich Roselló, Oriol, 1992- Gonzalez-Perez, Abel Rubio Pérez, Carlota, 1990- Tamborero Noguera, David Mularoni, Loris Deu-Pons, Jordi Muiños, Ferran Muyas Remolar, Francesc, 1992- |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Càncer Genòmica Genètica |
| topic |
Càncer Genòmica Genètica |
| 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 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. |
| publishDate |
2020 |
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2020 2020 2020 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
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http://hdl.handle.net/10230/44263 http://dx.doi.org/10.1038/s41586-020-1969-6 |
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http://hdl.handle.net/10230/44263 http://dx.doi.org/10.1038/s41586-020-1969-6 |
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Inglés |
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Inglés |
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Nature. 2020 Feb;578(7793):82-93 |
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http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess |
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http://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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Nature Research |
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Nature Research |
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