CDKN2A and esophageal squamous cell carcinoma: It also has been reported that the different mechanisms underlying tumorigenesis in patients with ESCC with and without a family history of the disease remained, and in ESCC patients with familial ESCC show germline mutations in BAX, CDKN2A, TP53, and CHEK1, and tumor-specific mutated genes in patients with a positive family history of ESCC were APC, AKT3, DPYD, EP300, NFE2L2, PPP2R1A, RUNX1, and VEGFA (14).