3’UTR-CDKN2A and CDK4 Germline Variants Are Associated With Susceptibility to Cutaneous Melanoma

• Published in: In vivo (Athens) Vol. 35; no. 3; pp. 1529 - 1536
• Main Authors: TOVAR-PARRA, DAVID, GIL-QUIÑONES, SEBASTIÁN RAMIRO, NOVA, JOHN, GUTIÉRREZ-CASTAÑEDA, LUZ D.
• Format: Journal Article
• Language: English
• Published: Greece International Institute of Anticancer Research 01.05.2021
• Subjects: 3' Untranslated Regions; Cell cycle; Chi-square test; Cyclin-Dependent Kinase 4 - genetics; Cyclin-Dependent Kinase Inhibitor p16 - genetics; Family medical history; Genetic Predisposition to Disease; Genetic testing; Germ-Line Mutation - genetics; Haplotypes; Humans; Kinases; Laboratories; Male; Melanoma; Melanoma - epidemiology; Melanoma - genetics; Patients; Proteins; Retinoblastoma; Skin Neoplasms - genetics; Software; Statistical analysis; variant; melanoma; cancer; susceptibility; germline variant; Haplotype
• ISSN: 0258-851X; 1791-7549; 1791-7549
• DOI: 10.21873/invivo.12406

Genetic variations of the CDKN2A and CDK4 gene have been associated to melanoma development. In the present study we investigated the potential associations of CDKN2A and CDK4 gene variants in a colombian population diagnosed with melanoma. DNA was extracted from whole blood samples from 85 patients diagnosed with cutaneous melanoma and 166 healthy controls. CDKN2A and CDK4 genes were genotyped using a high-resolution melting assay. A similar distribution of CDKN2A variants 500C>G and 540C>T was found among cases (12% and 31% respectively) and controls (15% and 31% respectively). The CDKN2A variants were present in 36% of acral lentiginous melanoma and 39.47% of lentigo maligna. The haplotype analysis showed an association with susceptibility in the development of melanoma. The presence of haplotype 500G/540C in males is associated with an increased risk of melanoma in a colombian population, especially in subjects with a family history of cancer.