Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of Uveal Melanoma

Considering the limited information about the role of hereditary predisposition to the development of uveal melanoma, we have performed an analysis of the frequencies ofBARD1 (rs1048108,rs2229571,rs2070094) andBRIP1 (rs4986764) gene polymorphisms in patients with uveal melanoma and benign choroidal nevus in comparison with healthy volunteers (control). It has been found that the minor alleles ofBRIP1 rs4986764 andBARD1 rs2070094 polymorphisms, as well as the homozygosity ofT allele at theBARD1 rs1048108 locus are common genetic markers for the predisposition to uveal melanoma and benign choroidal nevus, while the homozygous genotypeGG for theBARD1 rs2229571 polymorphism is a specific marker for the predisposition to uveal melanoma and progressive choroidal nevus. We have also found that the heterozygous genotype atBARD1 rs1048108 polymorphic locus is a specific marker for protection against uveal melanoma and progressive choroidal nevus. Thus, our results indicate the advisability of studying polymorphisms of theBARD1 gene (rs1048108,rs2229571, andrs2070094) and theBRIP1 gene (rs4986764) in patients with uveal melanoma and progressive choroidal nevus. The obtained findings can be used for forming risk groups, prevention of uveal melanoma, and differential diagnosis of intraocular neoplasms.
Source: Bulletin of Experimental Biology and Medicine - Category: Biology Source Type: research