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

doi:10.1097/CMR.0b013e3283287d3e

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

Rīga Stradiņš University

Research output: Contribution to journal › Article › peer-review

10 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 language	English
Pages (from-to)	119-122
Number of pages	4
Journal	Melanoma Research
Volume	19
Issue number	2
DOIs	https://doi.org/10.1097/CMR.0b013e3283287d3e
Publication status	Published - 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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10.1097/CMR.0b013e3283287d3e

https://journals.lww.com/melanomaresearch/Abstract/2009/04000/Identification_of_a_CDK4_R24H_mutation_positive.10.aspx

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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 (≤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.",

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doi = "10.1097/CMR.0b013e3283287d3e",

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T1 - Identification of a CDK4 R24H mutation-positive melanoma family by analysis of early-onset melanoma patients in Latvia

AU - Pjanova, Dace

AU - Molven, Anders

AU - Akslen, Lars A.

AU - Engele, Ludmila

AU - Streinerte, Baiba

AU - Azarjana, Kristine

AU - Heisele, Olita

PY - 2009/4

Y1 - 2009/4

N2 - 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.

AB - 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.

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AN - SCOPUS:65449116099

SN - 0960-8931

VL - 19

SP - 119

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JO - Melanoma Research

JF - Melanoma Research

IS - 2

ER -

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

Abstract

Field of Science*

Publication Type*

UN SDGs

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