Original Article
Subject Category: Melanocytes/Melanoma
Journal of Investigative Dermatology (2006) 126, 399–401. doi:10.1038/sj.jid.5700078; published online 29 December 2005
Germline CDKN2A Mutations Among Greek Patients with Early-Onset and Multiple Primary Cutaneous Melanoma
Alexander J Stratigos1, Guang Yang2, Remos Dimisianos3, Vasiliki Nicolaou1, Irene Stefanaki1, Andreas D Katsambas1 and Hensin Tsao2
- 1Department of Dermatology, University of Athens Medical School, Andreas Sygros Hospital, Athens, Greece
- 2Department of Dermatology, Wellman Center for Photomedicine, Massachusetts General Hospital, Boston, Massachusetts, USA
- 3Department of Medical Genetics, University of Athens Medical School, Agia Sophia Children's Hospital, Athens, Greece
Correspondence: Dr Hensin Tsao, Department of Dermatology, Massachusetts General Hospital, 622 Bartlett Hall, 48 Blossom Street, Boston, Massachusetts 02114, USA. E-mail: tsao.hensin@mgh.harvard.edu
Received 13 September 2005; Accepted 13 October 2005; Published online 29 December 2005.
Abstract
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 (
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.
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