The mutational landscape of chromatin regulatory factors across 4,623 tumor samples

Background: Chromatin regulatory factors are emerging as important genes in cancer development and are regarded as interesting candidates for novel targets for cancer treatment. However, we lack a comprehensive understanding of the role of this group of genes in different cancer types. Results: We h...

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Detalles Bibliográficos
Autores: González-Pérez, Abel, Jené i Sanz, Alba, 1984-, López Bigas, Núria
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2013
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/23215
Acceso en línea:http://hdl.handle.net/10230/23215
http://dx.doi.org/10.1186/gb-2013-14-9-r106
Access Level:acceso abierto
Palabra clave:Transformació cel·lular
Leucèmia
Proteïnes -- Metabolisme
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repository_id_str
spelling The mutational landscape of chromatin regulatory factors across 4,623 tumor samplesGonzález-Pérez, AbelJené i Sanz, Alba, 1984-López Bigas, NúriaTransformació cel·lularLeucèmiaProteïnes -- MetabolismeBackground: Chromatin regulatory factors are emerging as important genes in cancer development and are regarded as interesting candidates for novel targets for cancer treatment. However, we lack a comprehensive understanding of the role of this group of genes in different cancer types. Results: We have analyzed 4,623 tumor samples from thirteen anatomical sites to determine which chromatin regulatory factors are candidate drivers in these different sites. We identify 34 chromatin regulatory factors that are likely drivers in tumors from at least one site, all with relatively low mutational frequency. We also analyze the relative importance of mutations in this group of genes for the development of tumorigenesis in each site, and in different tumor types from the same site. Conclusions: We find that, although tumors from all thirteen sites show mutations in likely driver chromatin regulatory factors, these are more prevalent in tumors arising from certain tissues. With the exception of hematopoietic, liver and kidney tumors, as a median, the mutated factors are less than one fifth of all mutated drivers across all sites analyzed. We also show that mutations in two of these genes, MLL and EP300, correlate with broad expression changes across cancer cell lines, thus presenting at least one mechanism through which these mutations could contribute to tumorigenesis in cells of the corresponding tissues.We acknowledge funding from the Spanish Ministry of Economy and Competitivity (grant numbers SAF2009-06954 and SAF2012-36199) and the Spanish National Institute of Bioinformatics. AJ-S is supported by an FPI fellowshipBioMed Central201520152013info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/23215http://dx.doi.org/10.1186/gb-2013-14-9-r106reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésGenome Biology. 2013; 14: r106info:eu-repo/grantAgreement/ES/3PN/SAF2009-06954info:eu-repo/grantAgreement/ES/3PN/SAF2012-36199© 2013 Gonzalez-Perez et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.http://creativecommons.org/licenses/by/2.0info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/232152026-06-12T07:21:37Z
dc.title.none.fl_str_mv The mutational landscape of chromatin regulatory factors across 4,623 tumor samples
title The mutational landscape of chromatin regulatory factors across 4,623 tumor samples
spellingShingle The mutational landscape of chromatin regulatory factors across 4,623 tumor samples
González-Pérez, Abel
Transformació cel·lular
Leucèmia
Proteïnes -- Metabolisme
title_short The mutational landscape of chromatin regulatory factors across 4,623 tumor samples
title_full The mutational landscape of chromatin regulatory factors across 4,623 tumor samples
title_fullStr The mutational landscape of chromatin regulatory factors across 4,623 tumor samples
title_full_unstemmed The mutational landscape of chromatin regulatory factors across 4,623 tumor samples
title_sort The mutational landscape of chromatin regulatory factors across 4,623 tumor samples
dc.creator.none.fl_str_mv González-Pérez, Abel
Jené i Sanz, Alba, 1984-
López Bigas, Núria
author González-Pérez, Abel
author_facet González-Pérez, Abel
Jené i Sanz, Alba, 1984-
López Bigas, Núria
author_role author
author2 Jené i Sanz, Alba, 1984-
López Bigas, Núria
author2_role author
author
dc.subject.none.fl_str_mv Transformació cel·lular
Leucèmia
Proteïnes -- Metabolisme
topic Transformació cel·lular
Leucèmia
Proteïnes -- Metabolisme
description Background: Chromatin regulatory factors are emerging as important genes in cancer development and are regarded as interesting candidates for novel targets for cancer treatment. However, we lack a comprehensive understanding of the role of this group of genes in different cancer types. Results: We have analyzed 4,623 tumor samples from thirteen anatomical sites to determine which chromatin regulatory factors are candidate drivers in these different sites. We identify 34 chromatin regulatory factors that are likely drivers in tumors from at least one site, all with relatively low mutational frequency. We also analyze the relative importance of mutations in this group of genes for the development of tumorigenesis in each site, and in different tumor types from the same site. Conclusions: We find that, although tumors from all thirteen sites show mutations in likely driver chromatin regulatory factors, these are more prevalent in tumors arising from certain tissues. With the exception of hematopoietic, liver and kidney tumors, as a median, the mutated factors are less than one fifth of all mutated drivers across all sites analyzed. We also show that mutations in two of these genes, MLL and EP300, correlate with broad expression changes across cancer cell lines, thus presenting at least one mechanism through which these mutations could contribute to tumorigenesis in cells of the corresponding tissues.
publishDate 2013
dc.date.none.fl_str_mv 2013
2015
2015
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 http://hdl.handle.net/10230/23215
http://dx.doi.org/10.1186/gb-2013-14-9-r106
url http://hdl.handle.net/10230/23215
http://dx.doi.org/10.1186/gb-2013-14-9-r106
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Genome Biology. 2013; 14: r106
info:eu-repo/grantAgreement/ES/3PN/SAF2009-06954
info:eu-repo/grantAgreement/ES/3PN/SAF2012-36199
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/2.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/2.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
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