Τίτλος:
CDKN2A/CDK4 status in Greek patients with familial melanoma and association with clinico-epidemiological parameters
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Karagianni, F.
Njauw, C.-N.
Kypreou, K.P.
Stergiopoulou, A.
Plaka, M.
Polydorou, D.
Chasapi, V.
Pappas, L.
Stratigos, Ι.A.
Champsas, G.
Panagiotou, P.
Gogas, H.
Evangelou, E.
Tsao, H.
Stratigos, A.J.
Stefanaki, I.
Περιοδικό:
Acta Dermato-Venereologica
Εκδότης:
Medical Journals/Acta D-V
Λέξεις-κλειδιά:
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
DOI:
10.2340/00015555-2969
