Identification of a CDK4 R24H mutation-positive melanoma family by analysis of early-onset melanoma patients in Latvia

Dace Pjanova, Anders Molven, Lars A. Akslen, Ludmila Engele, Baiba Streinerte, Kristine Azarjana, Olita Heisele

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)119-122
Number of pages4
JournalMelanoma Research
Volume19
Issue number2
DOIs
Publication statusPublished - Apr 2009

Field of Science*

  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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