The purpose of this study was to perform a mutational analysis of the seven candidate melanoma susceptibility genes (ACD, BAP1, MC1R, MITF, POT1, TERF2IP, and TERT) in high-risk melanoma patients (familial melanoma and MPM) from southeastern Brazil, besides the CDKN2A and CDK4 genes. Here, TERF2IP is linked to melanoma.