Single-Nucleotide Polymorphisms of BRCA1 and BRCA2 and Risk of Papillary Thyroid Carcinoma

Abstract

Background/Objectives: We sought to evaluate the association between the risk of papillary thyroid carcinoma (PTC) and single-nucleotide polymorphisms (SNPs) of breast cancer genes 1 (BRCA1) and 2 (BRCA2). Methods: We prospectively recruited 515 cases with PTC and 296 controls without cancer. The genotypes of five BRCA1 SNPs (rs8176318, rs1799966, rs799917, rs16940, rs1799949) and three BRCA2 SNPs (rs15869, rs1799943, rs1799955) were determined using the TaqMan assay. We evaluated the association of haplotypes with the risk of PTC due to linkage disequilibrium (LD). Results: The five BRCA1 SNPs were significantly associated with the risk of PTC. The AC genotype of rs8176318 (OR = 0.69, p = 0.02) and the CT and CC genotypes of rs1799966 (OR = 0.70, p = 0.02 and OR = 0.67, p = 0.01, respectively) were associated with a decreased risk of PTC. The AG genotype of rs16940 (OR = 0.67, p = 0.01) and the AG genotypes of rs799917 and rs1799949 (both OR = 0.70, p = 0.02) decreased the risk of PTC. Haplotype 1 [rs8176318(C)-rs1799966(T)-rs799917(G)-rs16940(A)-rs1799949(G)] +/- (OR = 0.69, p = 0.02) and haplotype 2 [rs8176318(A)-rs1799966(C)-rs799917(A)-rs16940(G)-rs1799949(A)] +/- (OR = 0.71, p = 0.03) of BRCA1 reduced the risk of PTC. Conclusions: Our findings suggest that the polymorphisms of BRCA1 may contribute to the susceptibility to PTC in the Korean population.