AI Article Synopsis
- The study aimed to investigate the relationship between CDKN2A and CDK4 gene variations and melanoma in a Colombian population.
- DNA samples were collected from 85 melanoma patients and 166 healthy controls, and gene variants were analyzed using a specific assay.
- Results indicated no significant differences in CDKN2A variants between patients and controls, but a specific haplotype (500G/540C) was associated with a higher melanoma risk, particularly in males with a family cancer history.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8193344 | PMC |
| http://dx.doi.org/10.21873/invivo.12406 | DOI Listing |
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