2026-06-14T03:42:19Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/113432024-11-29T18:52:15Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
Trilla-Fuertes, Lucía
author
Ghanem, Ismael
author
Maurel, Joan
author
G-Pastrián, Laura
author
Mendiola, Marta
author
Peña, Cristina
author
López-Vacas, Rocío
author
Prado-Vázquez, Guillermo
author
López-Camacho, Elena
author
Zapater-Moros, Andrea
author
Heredia, Victoria
author
Cuatrecasas, Miriam
author
García-Alfonso, Pilar
author
Capdevila, Jaume
author
Conill, Carles
author
García-Carbonero, Rocio
author
Heath, Karen E
author
Ramos-Ruiz, Ricardo
author
Llorens, Carlos
author
Campos-Barros, Ángel
author
Gámez-Pozo, Angelo
author
Feliu, Jaime
author
Vara, Juan Ángel Fresno
author
Heath, Karen E.
funder
Instituto de Salud Carlos III
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
funder
Roche
funder
Grupo Español Multidisciplinar en Cáncer Digestivo
funder
Ministerio de Economía y Competitividad (España)
funder
Comunidad de Madrid (España)
2020-11-16T08:40:01Z
2020-11-16T08:40:01Z
2020-07
Transl Oncol. 2020;13(7):100778
10.1016/j.tranon.2020.100778
Translational oncology
32422573
http://hdl.handle.net/20.500.12105/11343
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.
eng
CANCER
OLAPARIB
ZNF750
TRIAL
Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma.
journal article
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URL
https://repisalud.isciii.es/bitstreams/3489bcd4-30f3-45a7-9cfe-b5a6b9c905d1/download
File
MD5
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application/pdf
ComprehensiveCharacterizationoftheMutational _2020.pdf
URL
https://repisalud.isciii.es/bitstreams/9b94552f-4d3b-49cd-8f18-daa82cd5cad1/download
File
MD5
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text/plain
ComprehensiveCharacterizationoftheMutational _2020.pdf.txt