@article {TOVAR-PARRA1529, author = {DAVID TOVAR-PARRA and SEBASTI{\'A}N RAMIRO GIL-QUI{\~N}ONES and JOHN NOVA and LUZ D. GUTI{\'E}RREZ-CASTA{\~N}EDA}, title = {3{\textquoteright}UTR-CDKN2A and CDK4 Germline Variants Are Associated With Susceptibility to Cutaneous Melanoma}, volume = {35}, number = {3}, pages = {1529--1536}, year = {2021}, doi = {10.21873/invivo.12406}, publisher = {International Institute of Anticancer Research}, abstract = {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.}, issn = {0258-851X}, URL = {https://iv.iiarjournals.org/content/35/3/1529}, eprint = {https://iv.iiarjournals.org/content/35/3/1529.full.pdf}, journal = {In Vivo} }