title: The Y152X MC1R gene mutation: occurrence in ethnically diverse Jewish malignant melanoma patients.
abstract: MC1R sequence variants are associated with malignant melanoma risk, and most commonly are missense mutations. Few (n=9) truncating mutations have been described in this gene as predisposing to malignant melanoma. In this study, three Jewish individuals were found to harbor an identical truncating MC1R mutation--Y152X: an Ashkenazi patient with two malignant melanomas, a non-Ashkenazi malignant melanoma patient with familial malignant melanoma and her asymptomatic mother. Both malignant melanoma patients carried additional, seemingly pathogenic MC1R variants. Haplotype analysis revealed that all three mutation carriers shared the same haplotype. This sequence variant was previously described in ethnically diverse, non-Jewish individuals and in all likelihood represents an error-prone domain that, in conjunction with other genetic and environmental factors, increases malignant melanoma risk.
authors.affiliation: Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Gilli
authors.initials: G
authors.lastname: Galore
authors.forename: Esther
authors.initials: E
authors.lastname: Azizi
authors.forename: Alon
authors.initials: A
authors.lastname: Scope
authors.forename: Felix
authors.initials: F
authors.lastname: Pavlotsky
authors.forename: Emanuel
authors.initials: E
authors.lastname: Yakobson
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
mesh_terms: D016022:Case-Control Studies; D005260:Female; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007585:Jews; D008297:Male; D008545:Melanoma / Q000208:ethnology* / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics* / Q000502:physiology*; D015203:Reproducibility of Results; D012306:Risk; D012878:Skin Neoplasms / Q000208:ethnology* / Q000235:genetics*
chemical_list: D044102:Receptor, Melanocortin, Type 1