Web of Science: 3 cites, Scopus: 2 cites, Google Scholar: cites,
Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma
Trilla-Fuertes, Lucía (Biomedica Molecular Medicine SL, C/Faraday 7, 28049, Madrid, Spain)
Ghanem, Ismael (Medical Oncology Department, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain)
Maurel, Joan (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
G-Pastrián, Laura (Molecular Pathology and Therapeutic Targets Group, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain)
Mendiola, Marta (Centro de Investigación Biomédica en Red de Cáncer)
Peña, Cristina (Pathology Department, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain)
López-Vacas, Rocío (Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain)
Prado-Vázquez, Guillermo (Biomedica Molecular Medicine SL, C/Faraday 7, 28049, Madrid, Spain)
López-Camacho, Elena (Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain)
Zapater-Moros, Andrea (Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain)
Heredia Soto, Victoria (Hospital Universitario La Paz (Madrid))
Cuatrecasas, Miriam (Hospital Clinic, CIBERehd. Department of Pathology)
García-Alfonso, Pilar (Hospital General Universitario Gregorio Marañón)
Capdevila, Jaume (Vall d'Hebron Institut d'Oncologia)
Conill, Carles (Hospital Clinic, CIBERehd. Department of Pathology)
García-Carbonero, Rocío (Hospital Universitario 12 de Octubre (Madrid))
Heath, Karen E. (Instituto de Investigación Hospital Universitario La Paz)
Ramos-Ruiz, Ricardo (Genomics Unit Cantoblanco, Parque Científico de Madrid, C/ Faraday 7, 28049, Madrid, Spain)
Llorens, Carlos (Biotechvana SL, Parque Científico de Madrid, C/ Faraday 7, 28049, Madrid, Spain)
Campos-Barros, Ángel (Instituto de Investigación Hospital Universitario La Paz)
Gámez-Pozo, Angelo (Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain)
Feliu, Jaime (Universidad Autónoma de Madrid)
Vara, Juan Ángel Fresno (Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain)

Data: 2020
Resum: 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.
Drets: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades. Creative Commons
Llengua: Anglès
Document: article ; recerca ; Versió publicada
Publicat a: Translational Oncology, Vol. 13 (may 2020) , ISSN 1936-5233

DOI: 10.1016/j.tranon.2020.100778
PMID: 32422573


8 p, 1.4 MB

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 Registre creat el 2020-07-13, darrera modificació el 2021-06-17



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