Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma.

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

SUBMITTER: Trilla-Fuertes L 

PROVIDER: S-EPMC7229291 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature