Melanoma Research Today is a free monthly online journal that collates and summarizes the latest research about Melanoma, including details on identification, causes, prevention, treatment.

Germline CDKN2A mutations among Greek patients with early-onset and multiple primary cutaneous melanoma.

Stratigos AJ, Yang G, Dimisianos R, Nicolaou V, Stefanaki I, Katsambas AD, Tsao H

Department of Dermatology, University of Athens Medical School, Andreas Sygros Hospital, Athens, Greece.

The genetic basis of melanoma susceptibility among Greek patients is uncharacterized. From 107 consecutive cutaneous melanoma patients, we analyzed the CDKN2A and CDK4 loci among 18 early-onset (< or =40 years) and two multiplex melanoma cases. Overall, we found three CDKN2A mutations (3/20; 15%), including one novel nonsense mutation (Trp110Stop) and two Arg24Pro missense alterations. There were no mutations in ARF or CDK4. CDKN2A mutations are not uncommon among Greek melanoma patients considering that none of the mutation carriers reported a family history of melanoma.

Published 18 January 2006 in J Invest Dermatol, 126(2): 399-401.
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