PT - JOURNAL ARTICLE AU - DAVID TOVAR-PARRA AU - SEBASTIÁN RAMIRO GIL-QUIÑONES AU - JOHN NOVA AU - LUZ D. GUTIÉRREZ-CASTAÑEDA TI - 3’UTR-CDKN2A and CDK4 Germline Variants Are Associated With Susceptibility to Cutaneous Melanoma AID - 10.21873/invivo.12406 DP - 2021 May 01 TA - In Vivo PG - 1529--1536 VI - 35 IP - 3 4099 - http://iv.iiarjournals.org/content/35/3/1529.short 4100 - http://iv.iiarjournals.org/content/35/3/1529.full SO - In Vivo2021 May 01; 35 AB - Background/Aim: 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. Materials and Methods: 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. Results: 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. Conclusion: 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.