Associated Genetic Biomarkers
TSC2 A447V is present in 0.04% of AACR GENIE cases, with anal squamous cell carcinoma, bladder urothelial carcinoma, cervical squamous cell carcinoma, lung adenoid cystic carcinoma, and ovarian endometrioid adenocarcinoma having the greatest prevalence .
Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.