TY - JOUR T1 - Comprehensive characterization of the mutational landscape in localized anal squamous cell carcinoma JF - bioRxiv DO - 10.1101/796367 SP - 796367 AU - Lucía Trilla-Fuertes AU - Ismael Ghanem AU - Joan Maurel AU - Laura G-Pastrián AU - Marta Mendiola AU - Cristina Peña AU - Rocío López-Vacas AU - Guillermo Prado-Vázquez AU - Elena López-Camacho AU - Andrea Zapater-Moros AU - Victoria Heredia AU - Miriam Cuatrecasas AU - Pilar García-Alfonso AU - Jaume Capdevila AU - Carles Conill AU - Rocío García-Carbonero AU - Karen E. Heath AU - Ricardo Ramos-Ruiz AU - Carlos Llorens AU - Ángel Campos-Barros AU - Angelo Gámez-Pozo AU - Jaime Feliu AU - Juan Ángel Fresno Vara Y1 - 2019/01/01 UR - http://biorxiv.org/content/early/2019/10/07/796367.abstract N2 - Purpose Anal squamous cell carcinoma (ASCC) is a rare neoplasm. Chemo-radiotherapy 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.Methods 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 variant and prognosis was also studied.Results 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.Conclusion High impact genetic variants in ASCC affect pathways involved in cancer development, and may play a role in the etiology of the disease. Variants in BRCA2, ZNF750, FAM208B, ZNF599 and ZC3H13 genes seem to be related with prognosis in ASCC. Sequencing of ASCC clinical samples appears an encouraging tool for the molecular portrait of this disease. ER -