dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
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 | Capdevila Castillon, Jaume |
dc.date.accessioned | 2021-11-10T11:14:05Z |
dc.date.available | 2021-11-10T11:14:05Z |
dc.date.issued | 2020-07-01 |
dc.identifier.citation | Trilla-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.issn | 1936-5233 |
dc.identifier.uri | https://hdl.handle.net/11351/6521 |
dc.description | Anal squamous cell carcinoma; Rare neoplasm; Prognosis |
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. |
dc.language.iso | eng |
dc.publisher | Elsevier |
dc.relation.ispartofseries | Translational Oncology;13 |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
dc.source | Scientia |
dc.subject | Càncer - Anus - Tractament |
dc.subject | Resistència als medicaments |
dc.subject.mesh | Anus Neoplasms |
dc.subject.mesh | /drug therapy |
dc.subject.mesh | Drug Resistance, Neoplasm |
dc.title | Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1016/j.tranon.2020.100778 |
dc.subject.decs | neoplasias del ano |
dc.subject.decs | /farmacoterapia |
dc.subject.decs | resistencia a los antineoplásicos |
dc.relation.publishversion | http://dx.doi.org/10.1016/j.tranon.2020.100778 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut 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.pmid | 32422573 |
dc.identifier.wos | 000552467200003 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI15%2F01310 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |