Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification

Carcinoma anal de cèl·lules escamoses; Biologia molecular; Proteòmica

Detalhes bibliográficos
Autores: Trilla-Fuertes, Lucía, Ghanem, Ismael, Gámez‑Pozo, Angelo, Maurel, Joan, G-Pastrián, Laura, Mendiola, Marta, Capdevila Castillon, Jaume
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/6458
Acesso em linha:https://hdl.handle.net/11351/6458
http://hdl.handle.net/11351/6458
Access Level:acceso abierto
Palavra-chave:Recte - Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Carcinoma::Carcinoma, Squamous Cell
DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms::Rectal Neoplasms::Anus Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::carcinoma::carcinoma de células escamosas
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales::neoplasias del recto::neoplasias del ano
Otros calificadores::Otros calificadores::Otros calificadores::/genética
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dc.title.none.fl_str_mv Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification
title Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification
spellingShingle Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification
Trilla-Fuertes, Lucía
Recte - Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Carcinoma::Carcinoma, Squamous Cell
DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms::Rectal Neoplasms::Anus Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::carcinoma::carcinoma de células escamosas
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales::neoplasias del recto::neoplasias del ano
Otros calificadores::Otros calificadores::Otros calificadores::/genética
title_short Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification
title_full Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification
title_fullStr Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification
title_full_unstemmed Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification
title_sort Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification
dc.creator.none.fl_str_mv Trilla-Fuertes, Lucía
Ghanem, Ismael
Gámez‑Pozo, Angelo
Maurel, Joan
G-Pastrián, Laura
Mendiola, Marta
Capdevila Castillon, Jaume
author Trilla-Fuertes, Lucía
author_facet Trilla-Fuertes, Lucía
Ghanem, Ismael
Gámez‑Pozo, Angelo
Maurel, Joan
G-Pastrián, Laura
Mendiola, Marta
Capdevila Castillon, Jaume
author_role author
author2 Ghanem, Ismael
Gámez‑Pozo, Angelo
Maurel, Joan
G-Pastrián, Laura
Mendiola, Marta
Capdevila Castillon, Jaume
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[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. [Gámez-Pozo A] Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz -IdiPAZ, 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. [Capdevila J] Servei d’Oncologia Mèdica, Vall Hebron Hospital Universitari, Barcelona, Spain. Vall Hebron Institute of Oncology (VHIO), Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Recte - Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Carcinoma::Carcinoma, Squamous Cell
DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms::Rectal Neoplasms::Anus Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::carcinoma::carcinoma de células escamosas
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales::neoplasias del recto::neoplasias del ano
Otros calificadores::Otros calificadores::Otros calificadores::/genética
topic Recte - Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Carcinoma::Carcinoma, Squamous Cell
DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms::Rectal Neoplasms::Anus Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::carcinoma::carcinoma de células escamosas
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales::neoplasias del recto::neoplasias del ano
Otros calificadores::Otros calificadores::Otros calificadores::/genética
description Carcinoma anal de cèl·lules escamoses; Biologia molecular; Proteòmica
publishDate 2020
dc.date.none.fl_str_mv 2020
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/6458
http://hdl.handle.net/11351/6458
url https://hdl.handle.net/11351/6458
http://hdl.handle.net/11351/6458
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Molecular & Cellular Proteomics;19(4)
https://doi.org/10.1074/mcp.RA120.001954
info:eu-repo/grantAgreement/ES/PE2013-2016/PI15%2F01310
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
image/jpeg
application/pdf
application/pdf
dc.publisher.none.fl_str_mv American Society for Biochemistry and Molecular Biology
publisher.none.fl_str_mv American Society for Biochemistry and Molecular Biology
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classificationTrilla-Fuertes, LucíaGhanem, IsmaelGámez‑Pozo, AngeloMaurel, JoanG-Pastrián, LauraMendiola, MartaCapdevila Castillon, JaumeRecte - Càncer - Aspectes genèticsDISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Carcinoma::Carcinoma, Squamous CellDISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms::Rectal Neoplasms::Anus NeoplasmsOther subheadings::Other subheadings::Other subheadings::/geneticsENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::carcinoma::carcinoma de células escamosasENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales::neoplasias del recto::neoplasias del anoOtros calificadores::Otros calificadores::Otros calificadores::/genéticaCarcinoma anal de cèl·lules escamoses; Biologia molecular; ProteòmicaAnal squamous cell carcinoma; Molecular biology; ProteomicsCarcinoma anal de células escamosas; Biología molecular; ProteómicaAnal squamous cell carcinoma is a rare tumor. Chemo-radiotherapy yields a 50% 3-year relapse-free survival rate in advanced anal cancer, so improved predictive markers and therapeutic options are needed. High-throughput proteomics and whole-exome sequencing were performed in 46 paraffin samples from anal squamous cell carcinoma patients. Hierarchical clustering was used to establish groups de novo. Then, probabilistic graphical models were used to study the differences between groups of patients at the biological process level. A molecular classification into two groups of patients was established, one group with increased expression of proteins related to adhesion, T lymphocytes and glycolysis; and the other group with increased expression of proteins related to translation and ribosomes. The functional analysis by the probabilistic graphical model showed that these two groups presented differences in metabolism, mitochondria, translation, splicing and adhesion processes. Additionally, these groups showed different frequencies of genetic variants in some genes, such as ATM, SLFN11 and DST. Finally, genetic and proteomic characteristics of these groups suggested the use of some possible targeted therapies, such as PARP inhibitors or immunotherapy.This study was supported by the Instituto de Salud Carlos III, Spanish Economy and Competitiveness Ministry, Spain and co-sponsored by the FEDER program, “Una forma de hacer Europa” (PI15/01310), a Roche Farma grant, Cátedra UAM-Amgen and a grant of Grupo Español Multidisciplinar en Cáncer Digestivo (GEMCAD1403). LT-F is supported by the Spanish Economy and Competitiveness Ministry (DI-15–07614). GP-V is supported by the Consejería de Educación, Juventud y Deporte of Comunidad de Madrid (IND2017/BMD7783); AZ-M is supported by Jesús Antolín Garciarena fellowship from IdiPAZ. The authors have declared a conflict of interest. JAFV and AG-P are shareholders in Biomedica Molecular Medicine SL. LT-F and GP-V are employees of Biomedica Molecular Medicine SL. JC has received honoraria for scientific consulting (as speaker and advisory roles) from Novartis, Pfizer, Ipsen, Exelixis, Bayer, Eisai, Advanced Accelerator Applications, Amgen, Sanofi and Merck Serono and research support from Eisai, Novartis, Ipsen, Astrazeneca, Pfizer and Advanced Accelerator Applications. IG has received honoraria and/or travel expenses from Roche, Sanofi, Merck, Servier, Amgen and Sirtflex, and for advisory role from Merck and Sanofi. JF has received consulting and advisory honoraria from Amgen, Ipsen, Eissai, Merck, Roche and Novartis; research funding from Merck, and travel and accommodation expenses from Amgen and Servier. The other authors declare no conflicts of interest.American Society for Biochemistry and Molecular BiologyInstitut Català de la Salut[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. [Gámez-Pozo A] Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz -IdiPAZ, 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. [Capdevila J] Servei d’Oncologia Mèdica, Vall Hebron Hospital Universitari, Barcelona, Spain. Vall Hebron Institute of Oncology (VHIO), Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202120212020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfimage/jpegapplication/pdfapplication/pdfhttps://hdl.handle.net/11351/6458http://hdl.handle.net/11351/6458Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésMolecular & Cellular Proteomics;19(4)https://doi.org/10.1074/mcp.RA120.001954info:eu-repo/grantAgreement/ES/PE2013-2016/PI15%2F01310Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/64582026-05-29T05:05:01Z
score 15.812429

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