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Revista Médica del Uruguay

On-line version ISSN 1688-0390


LARRE BORGES GARCIA, Alejandra et al. Predisposición hereditaria de padecer melanoma en familias uruguayas.: Resultados preliminares. Rev. Méd. Urug. [online]. 2007, vol.23, n.2, pp.109-115. ISSN 1688-0390.

Summary Cutaneous melanoma is the cancer whose incidence has the highest growing rates worldwide. Mortality rates have not decreased in spite of diagnostic and management therapies. There are two expressions of melanoma: sporadic and hereditary forms. The latest include persons with high risk to develop melanoma, whose frequency varies according to the studied population. The aim of this study is to analyze hereditary predisposition of melanoma in Uruguay. Fourteen families with high risk of hereditary melanoma were identified using a sift questionnaire. Search for germline mutations in CDKN2A and CDK4 was performed in 17 patients of these families who gave informed consent using PCR-SSCP (Polymerase Chain Reaction - Single Stranded Conformational Polymorphism). Fragments with atypical SSCP patterns were analyzed by sequenciation. Two mutations were identified; the first mutation in exon 2 of CDKN2A (E88X) in two first-degree relatives carriers of multiple melanomas and familial syndrome of atypical nevus (SFNA) with familial history of melanoma and pancreatic cancer (this germinal mutation has not been described in families with melanoma) and the second mutation (G101W) is one of the most frequent worldwide. Both mutations were identified in patients with SFNA and multiple melanoma within families. The frequency of these mutations is the same as reported in previous studies with similar selection criteria.


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