TY - JOUR
TI - CDKN2A/CDK4 status in Greek patients with familial melanoma and association with clinico-epidemiological parameters
AU - Karagianni, F.
AU - Njauw, C.-N.
AU - Kypreou, K.P.
AU - Stergiopoulou, A.
AU - Plaka, M.
AU - Polydorou, D.
AU - Chasapi, V.
AU - Pappas, L.
AU - Stratigos, Ι.A.
AU - Champsas, G.
AU - Panagiotou, P.
AU - Gogas, H.
AU - Evangelou, E.
AU - Tsao, H.
AU - Stratigos, A.J.
AU - Stefanaki, I.
JO - Acta Dermato-Venereologica
PY - 2018
VL - 98
TODO - 9
SP - 862-866
PB - Medical Journals/Acta D-V
SN - 0001-5555, 1651-2057
TODO - 10.2340/00015555-2969
TODO - 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
TODO - 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.
ER -