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http://hdl.handle.net/2445/127443
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DC Field | Value | Language |
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dc.contributor.author | Calvete, Oriol | - |
dc.contributor.author | Martinez, Paula | - |
dc.contributor.author | Garcia Pavia, Pablo | - |
dc.contributor.author | Benitez Buelga, Carlos | - |
dc.contributor.author | Paumard Hernández, Beatriz | - |
dc.contributor.author | Fernandez, Victoria | - |
dc.contributor.author | Dominguez, Fernando | - |
dc.contributor.author | Salas, Clara | - |
dc.contributor.author | Romero Laorden, Nuria | - |
dc.contributor.author | Garcia Donas, Jesus | - |
dc.contributor.author | Carrillo, Jaime | - |
dc.contributor.author | Perona, Rosario | - |
dc.contributor.author | Triviño, Juan Carlos | - |
dc.contributor.author | Andrés, Raquel | - |
dc.contributor.author | Cano, Juana María | - |
dc.contributor.author | Rivera, Barbara | - |
dc.contributor.author | Alonso Pulpon, Luis | - |
dc.contributor.author | Setién, Fernando | - |
dc.contributor.author | Esteller, Manel | - |
dc.contributor.author | Rodriguez Perales, Sandra | - |
dc.contributor.author | Bougeard, Gaelle | - |
dc.contributor.author | Frebourg, Tierry | - |
dc.contributor.author | Urioste, Miguel | - |
dc.contributor.author | Blasco, María A. | - |
dc.contributor.author | Benitez, Javier | - |
dc.date.accessioned | 2019-01-21T08:45:28Z | - |
dc.date.available | 2019-01-21T08:45:28Z | - |
dc.date.issued | 2015-09-25 | - |
dc.identifier.issn | 2041-1723 | - |
dc.identifier.uri | http://hdl.handle.net/2445/127443 | - |
dc.description.abstract | Cardiac angiosarcoma (CAS) is a rare malignant tumour whose genetic basis is unknown. Here we show, by whole-exome sequencing of a TP53-negative Li-Fraumeni-like (LFL) family including CAS cases, that a missense variant (p.R117C) in POT1 (protection of telomeres 1) gene is responsible for CAS. The same gene alteration is found in two other LFL families with CAS, supporting the causal effect of the identified mutation. We extend the analysis to TP53-negative LFL families with no CAS and find the same mutation in a breast AS family. The mutation is recently found once in 121,324 studied alleles in ExAC server but it is not described in any other database or found in 1,520 Spanish controls. In silico structural analysis suggests how the mutation disrupts POT1 structure. Functional and in vitro studies demonstrate that carriers of the mutation show reduced telomere-bound POT1 levels, abnormally long telomeres and increased telomere fragility. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Nature Publishing Group | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1038/ncomms9383 | - |
dc.relation.ispartof | Nature Communications, 2015, vol. 6, num. 8383 | - |
dc.relation.uri | https://doi.org/10.1038/ncomms9383 | - |
dc.rights | cc-by (c) Calvete, Oriol et al., 2015 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es | - |
dc.source | Articles publicats en revistes (Ciències Fisiològiques) | - |
dc.subject.classification | Tumors de parts toves | - |
dc.subject.classification | Epigenètica | - |
dc.subject.classification | Mutació (Biologia) | - |
dc.subject.classification | Telòmer | - |
dc.subject.other | Soft tissue tumors | - |
dc.subject.other | Epigenetics | - |
dc.subject.other | Mutation (Biology) | - |
dc.subject.other | Telomere | - |
dc.title | A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 662737 | - |
dc.date.updated | 2019-01-21T08:45:28Z | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/FP7/232854/EU//TEL STEM CELL | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/FP7/200950/EU//TELOMARKER | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 26403419 | - |
Appears in Collections: | Articles publicats en revistes (Ciències Fisiològiques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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File | Description | Size | Format | |
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662737.pdf | 1.95 MB | Adobe PDF | View/Open |
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