Anal Squamous Cell Carcinoma
Associated Genetic Biomarkers
NCI Definition: A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC. 
Anal squamous cell carcinomas most frequently harbor alterations in PIK3CA, KMT2D, FBXW7, SOX2, and BCL6 .
PIK3CA Mutation, PIK3CA Codon 545 Missense, PIK3CA E545K, KMT2D Mutation, and SOX2 Amplification are the most common alterations in anal squamous cell carcinoma .
There are 11 clinical trials for anal squamous cell carcinoma, of which 11 are open and 0 are completed or closed. Of the trials that contain anal squamous cell carcinoma as an inclusion criterion, 3 are phase 1 (3 open), 3 are phase 1/phase 2 (3 open), 3 are phase 2 (3 open), and 2 are phase 3 (2 open).
CDKN2A and HPV are the most frequent gene inclusion criteria for anal squamous cell carcinoma clinical trials .
Avelumab, nivolumab, and pembrolizumab are the most common interventions in anal squamous cell carcinoma clinical trials.
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.