In families without mutations in CDKN2A and CDK4 genes, the use of NGS methodologies has allowed the identification of rare germline mutations in a few novel melanoma susceptibility genes, namely BRCA1 Associated Protein 1 (BAP1), TERT, Protection of Telomeres 1 (POT1), ACD Shelterin Complex Subunit and Telomerase Recruitment Factor (ACD), TERF2 Interacting Protein (TERF2IP) (high risk genes) and MC1R, MITF (low to moderate risk genes). The gene discussed is TERF2IP; the disease is melanoma.