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

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