Fani Karagianni, Ching-Ni Njauw, Katerina P. Kypreou, Aravela Stergiopoulou, Michaela Plaka, Dorothea Polydorou, Vasiliki Chasapi, Leontios Pappas, Ioannis A. Stratigos, Gregory Champsas, Peter Panagiotou, Helen Gogas, Evangelos Evangelou, Hensin Tsao, Alexander J. Stratigos, Irene Stefanaki
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.

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