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dc.contributorVall d'Hebron Barcelona Hospital Campus
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.authorCapdevila Castillon, Jaume
dc.date.accessioned2021-11-10T11:14:05Z
dc.date.available2021-11-10T11:14:05Z
dc.date.issued2020-07-01
dc.identifier.citationTrilla-Fuertes L, Ghanem I, Maurel J, G-Pastrián L, Mendiola M, Peña C, et al. Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma. Transl Oncol. 2020 Jul 1;13:100778.
dc.identifier.issn1936-5233
dc.identifier.urihttp://hdl.handle.net/11351/6521
dc.descriptionAnal squamous cell carcinoma; Rare neoplasm; Prognosis
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.
dc.language.isoeng
dc.publisherElsevier
dc.relation.ispartofseriesTranslational Oncology;13
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceScientia
dc.subjectCàncer - Anus - Tractament
dc.subjectResistència als medicaments
dc.subject.meshAnus Neoplasms
dc.subject.mesh/drug therapy
dc.subject.meshDrug Resistance, Neoplasm
dc.titleComprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1016/j.tranon.2020.100778
dc.subject.decsneoplasias del ano
dc.subject.decs/farmacoterapia
dc.subject.decsresistencia a los antineoplásicos
dc.relation.publishversionhttp://dx.doi.org/10.1016/j.tranon.2020.100778
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Trilla-Fuertes L] Biomedica Molecular Medicine SL, C/Faraday 7, 28049, Madrid, Spain. [Ghanem I] Medical Oncology Department, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. [Maurel J] Medical Oncology Department, Hospital Clinic of Barcelona, Translational Genomics and Targeted Therapeutics in Solid Tumors Group, IDIBAPS, University of Barcelona, Carrer de Villarroel 170, 08036, Barcelona, Spain. [G-Pastrián L] Pathology Department, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. Molecular Pathology and Therapeutic Targets Group, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain. [Mendiola M] Molecular Pathology and Therapeutic Targets Group, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain. Biomedical Research Networking Center on Oncology-CIBERONC, ISCIII, Av. Monforte de Lemos 5, 28029, Madrid, Spain. [Peña C] Pathology Department, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. [Capdevila J] Servei d’Oncologia Mèdica, Vall Hebron Hospital Universitari, Barcelona, Spain. Vall Hebron Institute of Oncology (VHIO), Barcelona, Spain
dc.identifier.pmid32422573
dc.identifier.wos000552467200003
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2013-2016/PI15%2F01310
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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