MITF and melanoma: Furthermore, hereditary melanoma has been associated with germline mutations in high-risk melanoma susceptibility genes (CDKN2A, CDK4, TERT, POT1) [8,9,10,11,12,13], polymorphisms in intermediate-risk melanoma susceptibility genes (BAP1, ACD, TERF2IP, MC1R and MITF) [14,15,16], and germline missense substitutions in MITF [17].