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  • Title: CDKN2A mutations in melanoma families from Uruguay.
    Author: Larre Borges A, Cuéllar F, Puig-Butillé JA, Scarone M, Delgado L, Badenas C, Milà M, Malvehy J, Barquet V, Núñez J, Laporte M, Fernández G, Levrero P, Martínez-Asuaga M, Puig S.
    Journal: Br J Dermatol; 2009 Sep; 161(3):536-41. PubMed ID: 19523171.
    Abstract:
    BACKGROUND: Familial melanoma, a cluster of several cases within a single family, accounts for approximately 10% of cases of melanoma. Hereditary melanoma is defined as two or more first-degree relatives having melanoma. A member of a melanoma-prone family has a 35-70-fold increased relative risk of developing a melanoma. Genetic susceptibility is linked to the major susceptibility genes CDKN2A and CDK4, and the minor susceptibility gene MC1R. OBJECTIVES: To determine the clinical and genetic characteristics of cutaneous melanoma in melanoma-prone families from Uruguay. METHODS: We studied 13 individuals from six melanoma-prone families living in Uruguay. Phenotype, familial and personal history were recorded. Molecular screening of CDKN2A and CDK4 was done by polymerase chain reaction-single strand conformational polymorphism analysis. The MC1R gene was sequenced. RESULTS: Mutations in CDKN2A were detected in five of six families: c.-34G>T, p.G101W and p.E88X. A novel germline mutation p.E88X, associated with hereditary melanoma in two unrelated families, is described. We hypothesize that a founder effect occurred probably in the Mediterranean region. No mutations in CDK4 were detected. Six different MC1R variants, all previously reported, were present in Uruguayan families. CONCLUSIONS: The overall rate of deleterious CDKN2A mutations in our familial melanoma pedigrees, even though the sample size is small, was considerably higher (83%) than the often quoted range.
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