title: Identification of a CDK4 R24H mutation-positive melanoma family by analysis of early-onset melanoma patients in Latvia.
abstract: We have analysed 47 early-onset (< or =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.
authors.affiliation: Latvian Biomedical Research and Study Centre, Riga, Latvia. dace@biomed.lu.lv
authors.forename: Dace
authors.initials: D
authors.lastname: Pjanova
authors.forename: Anders
authors.initials: A
authors.lastname: Molven
authors.forename: Lars A
authors.initials: LA
authors.lastname: Akslen
authors.forename: Ludmila
authors.initials: L
authors.lastname: Engele
authors.forename: Baiba
authors.initials: B
authors.lastname: Streinerte
authors.forename: Kristine
authors.initials: K
authors.lastname: Azarjana
authors.forename: Olita
authors.initials: O
authors.lastname: Heisele
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D002648:Child; D051358:Cyclin-Dependent Kinase 4 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D019942:Genes, p16; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007844:Latvia / Q000453:epidemiology; D008297:Male; D008545:Melanoma / Q000208:ethnology / Q000235:genetics*; D020125:Mutation, Missense; D016609:Neoplasms, Second Primary / Q000235:genetics; D017354:Point Mutation; D055815:Young Adult
chemical_list: D004273:DNA, Neoplasm; C495900:CDK4 protein, human; D051358:Cyclin-Dependent Kinase 4