MITF and melanoma: By sequencing the entire coding sequence of MITF in a highly selected set of patients presenting either a strong family history of CMM or multiple primary melanomas, our group identified a germline missense substitution p.E318K (c.952G>A, NM_000248.3), occurring at a significantly higher frequency in the at-risk patients than in the control population and conferring a 5-fold increased melanoma risk [39].