Since other SNVs in genes with equal or even greater importance in melanogenesis may not have been selected in the previous analyzed populations, we conducted an association study in patients with CM and healthy controls from Brazil, and identified three SNVs of MC1R pathway, ADCY3 c.675+9196T>G, CREB1 c.303+373G>A and MITF c.938-325G>A in association with tumor risk and clinicopathological features. Here, MC1R is linked to cutaneous mastocytosis.