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o u r c e : h t t p s : / / d o i . o r g / 1 0 . 7 8 9 2 / b o r i s . 4 7 3 0 5 | d o w n l o a d e d : 2 3 . 6 . 2 0 2 1 variant (p.[Leu91Leu] (p16)/p.[Gly106Arg] (p14ARF)) that has not been previously described in Caucasoid control population was identified. The implication of this variant in melanoma susceptibility is unknown. At least one MCR1 associated risk polymorphism (V60L, R151C, R160W, D294E, V92M, I155T, R163Q, c.86dupA) was identified in 43 patients (74%) with more than one polymorphism in 18 patients (31%). Among CDKN2 A mutation carriers, all of them have one or more MCR1 associated polymorphism. Discussion: Genetic susceptibility to melanoma is complex. Isolated populations may be carriers of new variants with unknown effect in risk. To better understanding the risk in a given population to be able to offer genetic counselling, it is crucial to perform studies to better understand the diversity of the disease.

Characterization of the binding of plectin and BPAG1e to intermediate filaments gives insights into genetic diseases affecting these proteins