CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters

• Published in: Acta dermato-venereologica Vol. 98; no. 9; pp. 862 - 866
• Main Authors: Karagianni, Fani, Njauw, Ching-Ni, Kypreou, Katerina P, Stergiopoulou, Aravela, Plaka, Michaela, Polydorou, Dorothea, Chasapi, Vasiliki, Pappas, Leontios, Stratigos, Ioannis A, Champsas, Gregory, Panagiotou, Peter, Gogas, Helen, Evangelou, Evangelos, Tsao, Hensin, Stratigos, Alexander J, Stefanaki, Irene
• Format: Journal Article
• Language: English
• Published: Sweden Medical Journals Sweden 10.10.2018
• Subjects: Adult; Age of Onset; Aged; Biomarkers, Tumor - genetics; CDK4; CDKN2A; Cyclin-Dependent Kinase 4 - genetics; Cyclin-Dependent Kinase Inhibitor p18 - genetics; familialmelanoma; Female; Genetic Predisposition to Disease; Greece; Greece - epidemiology; Heredity; Humans; Incidence; Male; MC1R; Melanoma - epidemiology; Melanoma - genetics; Melanoma - pathology; Middle Aged; Molecular Epidemiology; Mutation; Pedigree; Phenotype; Polymorphism, Single Nucleotide; Receptor, Melanocortin, Type 1 - genetics; Risk Factors; Skin Neoplasms - epidemiology; Skin Neoplasms - genetics; Skin Neoplasms - pathology; Greece; Greece; familialmelanoma; MC1R; CDK4; CDKN2A
• ISSN: 0001-5555; 1651-2057
• DOI: 10.2340/00015555-2969

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 χ2 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.