@article{3107860,
    title = "CDKN2A/CDK4 status in Greek patients with familial melanoma and association with clinico-epidemiological parameters",
    author = "Karagianni, F. and Njauw, C.-N. and Kypreou, K.P. and Stergiopoulou, A. and Plaka, M. and Polydorou, D. and Chasapi, V. and Pappas, L. and Stratigos, Ι.A. and Champsas, G. and Panagiotou, P. and Gogas, H. and Evangelou, E. and Tsao, H. and Stratigos, A.J. and Stefanaki, I.",
    journal = "Acta Dermato-Venereologica",
    year = "2018",
    volume = "98",
    number = "9",
    pages = "862-866",
    publisher = "Medical Journals/Acta D-V",
    issn = "0001-5555, 1651-2057",
    doi = "10.2340/00015555-2969",
    keywords = "cyclin dependent kinase 4;  cyclin dependent kinase inhibitor 2A;  mc1r protein;  protein;  unclassified drug;  CDK4 protein, human;  CDKN2A protein, human;  cyclin dependent kinase 4;  cyclin dependent kinase inhibitor 2C;  melanocortin 1 receptor;  tumor marker, adult;  Article;  cancer incidence;  clinical evaluation;  comparative study;  controlled study;  cross-sectional study;  disease association;  epidemiological data;  familial disease;  familial melanoma;  female;  gene mutation;  genetic association;  genetic polymorphism;  genotype;  Greece;  human;  major clinical study;  male;  melanoma;  outcome assessment;  population;  priority journal;  aged;  genetic predisposition;  genetics;  heredity;  incidence;  melanoma;  middle aged;  molecular epidemiology;  mutation;  onset age;  pathology;  pedigree;  phenotype;  risk factor;  single nucleotide polymorphism;  skin tumor, Adult;  Age of Onset;  Aged;  Biomarkers, Tumor;  Cyclin-Dependent Kinase 4;  Cyclin-Dependent Kinase Inhibitor p18;  Female;  Genetic Predisposition to Disease;  Greece;  Heredity;  Humans;  Incidence;  Male;  Melanoma;  Middle Aged;  Molecular Epidemiology;  Mutation;  Pedigree;  Phenotype;  Polymorphism, Single Nucleotide;  Receptor, Melanocortin, Type 1;  Risk Factors;  Skin Neoplasms",
    abstract = "Approximately 5–10% of melanoma cases occur in a familial context. CDKN2A/CDK4 were the first high-penetrance melanoma genes identified. The aims of this study were to evaluate CDKN2A/CDK4 variants in Greek familial melanoma patients and to correlate the mutational status with specific clinico-epidemiological characteristics. A cross-sectional study was conducted by genotyping CDKN2A/CDK4 variants and selected MC1R polymorphisms in 52 melanoma-prone families. Descriptive statistics were calculated and comparisons were made using the χ 2 test, Fisher’s exact test and Student’s t-test for statistical analysis, as appropriate. CDKN2A variants were detected in 46.2% of melanoma-prone families, while a CDK4 variant was found in only one family. This study confirmed that, in the Greek population, the age at melanoma diagnosis was lower in patients carrying a variant in CDKN2A compared with wild-type patients. No statistically significant associations were found between CDKN2A mutational status and MC1R polymorphisms. © 2018 Acta Dermato-Venereologica."
}