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dc.contributor.author | Trilla-Fuertes, Lucía | |
dc.contributor.author | Ghanem, Ismael | |
dc.contributor.author | Maurel, Joan | |
dc.contributor.author | G-Pastrián, Laura | |
dc.contributor.author | Mendiola, Marta | |
dc.contributor.author | Peña, Cristina | |
dc.contributor.author | López-Vacas, Rocío | |
dc.contributor.author | Prado-Vázquez, Guillermo | |
dc.contributor.author | López-Camacho, Elena | |
dc.contributor.author | Zapater-Moros, Andrea | |
dc.contributor.author | Heredia, Victoria | |
dc.contributor.author | Cuatrecasas, Miriam | |
dc.contributor.author | García-Alfonso, Pilar | |
dc.contributor.author | Capdevila, Jaume | |
dc.contributor.author | Conill, Carles | |
dc.contributor.author | García-Carbonero, Rocio | |
dc.contributor.author | Heath, Karen E | |
dc.contributor.author | Ramos-Ruiz, Ricardo | |
dc.contributor.author | Llorens, Carlos | |
dc.contributor.author | Campos-Barros, Ángel | |
dc.contributor.author | Gámez-Pozo, Angelo | |
dc.contributor.author | Feliu, Jaime | |
dc.contributor.author | Vara, Juan Ángel Fresno | |
dc.contributor.author | Heath, Karen E. | |
dc.date.accessioned | 2020-11-16T08:40:01Z | |
dc.date.available | 2020-11-16T08:40:01Z | |
dc.date.issued | 2020-07 | |
dc.identifier.citation | Transl Oncol. 2020;13(7):100778 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/11343 | |
dc.description.abstract | Anal squamous cell carcinoma (ASCC) is a rare neoplasm. Chemoradiotherapy is the standard of care, with no therapeutic advances achieved over the past three decades. Thus, a deeper molecular characterization of this disease is still necessary. We analyzed 46 paraffin-embedded tumor samples from patients diagnosed with primary ASCC by exome sequencing. A bioinformatics approach focused in the identification of high-impact genetic variants, which may act as drivers of oncogenesis, was performed. The relation between genetics variants and prognosis was also studied. The list of high-impact genetic variants was unique for each patient. However, the pathways in which these genes are involved are well-known hallmarks of cancer, such as angiogenesis or immune pathways. Additionally, we determined that genetic variants in BRCA2, ZNF750, FAM208B, ZNF599, and ZC3H13 genes are related with poor disease-free survival in ASCC. This may help to stratify the patient's prognosis and open new avenues for potential therapeutic intervention. In conclusion, sequencing of ASCC clinical samples appears an encouraging tool for the molecular portrait of this disease. | es_ES |
dc.description.sponsorship | This study was supported by Instituto de Salud Carlos III, Spanish Economy and CompetitivenessMinistry, Spain and co-funded by the FEDER program "Una forma de hacer Europa" (PI15/01310), a Roche Farma funding, Amgen and a grant from Grupo Espanol Multidisciplinar en Cancer Digestivo (GEMCAD1403). L. T.-F. is supported by the Spanish Economy and Competitiveness Ministry (DI-15-07614). G. P.-V. and E. L.-C. are supported by the Consejeria de Educacion, Juventud y Deporte of Comunidad de Madrid (IND2017/BMD7783); A. Z.-M. is supported by a Jesus Antolin Garciarena fellowship from IdiPAZ. The funders played no role in the study design, data collection and analysis, decision to publish or preparation of the manuscript. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Elsevier | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-sa/4.0/ | * |
dc.subject | CANCER | es_ES |
dc.subject | OLAPARIB | es_ES |
dc.subject | ZNF750 | es_ES |
dc.subject | TRIAL | es_ES |
dc.title | Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma. | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Atribución-NoComercial-CompartirIgual 4.0 Internacional | * |
dc.identifier.pubmedID | 32422573 | es_ES |
dc.format.volume | 13 | es_ES |
dc.format.number | 7 | es_ES |
dc.format.page | 100778 | es_ES |
dc.identifier.doi | 10.1016/j.tranon.2020.100778 | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | |
dc.contributor.funder | Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) | |
dc.contributor.funder | Roche | |
dc.contributor.funder | Grupo Español Multidisciplinar en Cáncer Digestivo | |
dc.contributor.funder | Ministerio de Economía y Competitividad (España) | |
dc.contributor.funder | Comunidad de Madrid (España) | |
dc.description.peerreviewed | Sí | es_ES |
dc.relation.publisherversion | https://doi.org/10.1016/j.tranon.2020.100778. | es_ES |
dc.identifier.journal | Translational oncology | es_ES |
dc.repisalud.institucion | CNIO | es_ES |
dc.repisalud.orgCNIO | CNIO::Unidades técnicas::Unidad de Investigación Clínica de Cáncer Pulmón H12O-CNIO | es_ES |
dc.relation.projectID | info:eu_repo/grantAgreement/ES/PI15/01310 | es_ES |
dc.relation.projectID | info:eu_repo/grantAgreement/GEMCAD1403 | es_ES |
dc.rights.accessRights | open access | es_ES |