Article
Analysis of Latvian familial melanoma patients shows novel variants in the noncoding regions of CDKN2A and that the CDK4 mutation R24H is a founder mutation.
Melanoma research - 1 Jun 2013
Veinalde Rūta, Ozola Aija, Azarjana Kristīne, Molven Anders, Akslen Lars A, Doniņa Simona, Proboka Guna, Cēma Ingrīda, Baginskis Ainārs, Pjanova Dace
Abstract excerpt
Hereditary cutaneous melanoma is associated with mutations in the high-risk CDKN2A gene in about 40% of melanoma-prone families. Mutations in the CDK4 gene are the cause in only a few pedigrees. In this study, we analyzed 20 Latvian familial melanoma probands and carried out a comprehensive analysis of CDKN2A including sequencing of its promoter/intronic regions and deletion screening. We also analyzed the...
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