CDKN2A mutations in melanoma families from Uruguay.
Br J Dermatol
; 161(3): 536-41, 2009 Sep.
Article
em En
| MEDLINE
| ID: mdl-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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
/
Genes p16
/
Melanoma
Tipo de estudo:
Etiology_studies
Limite:
Adolescent
/
Adult
/
Aged
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Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Uruguay
Idioma:
En
Revista:
Br J Dermatol
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Uruguai