engleski

Molecular genetics of familial melanoma

Aproximately 10 % of malignant melanoma cases occur in individuals with a familial predisposition, often in association with clinical dysplastic nevi or atypical nevi, which are a major precursor of melanoma lesions. A locus for familial melanoma susceptibility (MLN) has been identified on the short arm of chromosome 9. This is the only melanoma susceptibility locus for which linkage evidence has been reported in more than one population, and it may be responsible for a large proportion of inherited melanoma. Segregation studies have been linked to markers in the 9p21 region. This region is frequently involved in deletions and rearrangements in dysplastic nevi and cutaneous malignant melanoma, as well as in constitutional deletions in patients with multiple primary melanomas. We are presently screening melanoma patients and their families for inheritance of disease haplotype. This may develop into clinical procedure for the diagnosis of familial melanoma. We also plan to estimate the relative frequency of familial predisposition to melanoma in Croatian population. We assume that inherited affected alleles in 9p21 region can be used as a genetic indicator of familial predisposition to melanoma. Genetic studies have been conducted at the Department of Molecular Medicine, Ruđer Bošković Institute, Zagreb, while patients are selected and samples prepared at the Department of Nuclear Medicine, Sestre milosrdnice University hospital Zagreb; Department of dermatology Split, Clinical hospital Split and Department of dermatovenerology, Zagreb, University hospital center Zagreb.

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