ORIGINAL ARTICLES: EpidemiologyIdentification of a CDK4 R24H mutation-positive melanoma family by analysis of early-onset melanoma patients in LatviaPjanova, Dacea; Molven, Andersd e; Akslen, Lars A.d e; Engele, Ludmilab; Streinerte, Baibab; Azarjana, Kristinea c; Heisele, OlitaaAuthor Information aLatvian Biomedical Research and Study Centre bLatvian Oncological Center cRiga Stradins University, Riga, Latvia dSection for Pathology, The Gade Institute, University of Bergen eDepartment of Pathology, Haukeland University Hospital, Bergen, Norway Correspondence to Dace Pjanova, PhD, Latvian Biomedical Research and Study Centre, Ratsupites Street 1, Riga LV-1067, Latvia Tel: +371 6780 8215; fax: +371 6744 2407; e-mail: [email protected] Received 29 September 2008 Accepted 31 December 2008 Melanoma Research: April 2009 - Volume 19 - Issue 2 - p 119-122 doi: 10.1097/CMR.0b013e3283287d3e Buy Metrics Abstract We have analysed 47 early-onset (≤40 years) Latvian melanoma patients for the involvement of the melanoma susceptibility loci CDKN2A and CDK4. We observed no disease-related mutations in CDKN2A, but one patient had a CDK4 R24H mutation and strong family history of melanoma. Haplotype analysis using microsatellite markers and single nucleotide polymorphisms showed that the Latvian haplotype is unique compared with that of other melanoma families with the R24H mutation. This finding supports the proposal that codon 24 is a mutational hotspot in the CDK4 gene. © 2009 Lippincott Williams & Wilkins, Inc.