Mostrar el registro sencillo del ítem

dc.contributor.authorTrilla-Fuertes, Lucía
dc.contributor.authorGhanem, Ismael
dc.contributor.authorMaurel, Joan
dc.contributor.authorG-Pastrián, Laura
dc.contributor.authorMendiola, Marta
dc.contributor.authorPeña, Cristina
dc.contributor.authorLópez-Vacas, Rocío
dc.contributor.authorPrado-Vázquez, Guillermo
dc.contributor.authorLópez-Camacho, Elena
dc.contributor.authorZapater-Moros, Andrea
dc.contributor.authorHeredia, Victoria
dc.contributor.authorCuatrecasas, Miriam
dc.contributor.authorGarcía-Alfonso, Pilar
dc.contributor.authorCapdevila, Jaume
dc.contributor.authorConill, Carles
dc.contributor.authorGarcía-Carbonero, Rocio 
dc.contributor.authorHeath, Karen E
dc.contributor.authorRamos-Ruiz, Ricardo
dc.contributor.authorLlorens, Carlos
dc.contributor.authorCampos-Barros, Ángel
dc.contributor.authorGámez-Pozo, Angelo
dc.contributor.authorFeliu, Jaime
dc.contributor.authorVara, Juan Ángel Fresno
dc.contributor.authorHeath, Karen E.
dc.date.accessioned2020-11-16T08:40:01Z
dc.date.available2020-11-16T08:40:01Z
dc.date.issued2020-07
dc.identifier.citationTransl Oncol. 2020;13(7):100778es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/11343
dc.description.abstractAnal 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.sponsorshipThis 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.isoenges_ES
dc.publisherElsevier es_ES
dc.type.hasVersionVoRes_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectCANCERes_ES
dc.subjectOLAPARIBes_ES
dc.subjectZNF750es_ES
dc.subjectTRIALes_ES
dc.titleComprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma.es_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.pubmedID32422573es_ES
dc.format.volume13es_ES
dc.format.number7es_ES
dc.format.page100778es_ES
dc.identifier.doi10.1016/j.tranon.2020.100778es_ES
dc.contributor.funderInstituto de Salud Carlos III 
dc.contributor.funderUnión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) 
dc.contributor.funderRoche 
dc.contributor.funderGrupo Español Multidisciplinar en Cáncer Digestivo
dc.contributor.funderMinisterio de Economía y Competitividad (España) 
dc.contributor.funderComunidad de Madrid (España) 
dc.description.peerreviewedes_ES
dc.relation.publisherversionhttps://doi.org/10.1016/j.tranon.2020.100778.es_ES
dc.identifier.journalTranslational oncologyes_ES
dc.repisalud.institucionCNIOes_ES
dc.repisalud.orgCNIOCNIO::Unidades técnicas::Unidad de Investigación Clínica de Cáncer Pulmón H12O-CNIOes_ES
dc.relation.projectIDinfo:eu_repo/grantAgreement/ES/PI15/01310es_ES
dc.relation.projectIDinfo:eu_repo/grantAgreement/GEMCAD1403es_ES
dc.rights.accessRightsopen accesses_ES


Ficheros en el ítem

Acceso Abierto
Thumbnail

Este ítem aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del ítem

Atribución-NoComercial-CompartirIgual 4.0 Internacional
Este Item está sujeto a una licencia Creative Commons: Atribución-NoComercial-CompartirIgual 4.0 Internacional