OCA2 and melanoma: This is in keeping with the recent report, by Goldstein and colleagues [51] that familial melanoma cases in the USA had an increased burden of rare germline variants in TYR and OCA2, and sporadic melanoma cases an increased frequency of mutations in TYR. In particular, the TYR stopgain p.R402* mutation (rs62645917) co-segregated with melanoma in five familial cases and has a population frequency of ~3x10-5.