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In this paper, 8 tag SNP markers (rs1800054 in ATM, rs180177102 and rs180177132 in PALB2, CHEK2 1100 delC, CHEK2 IVS2+1G>A, RAD50, rs1801320 in RAD51, rs6138178 in SNRPB), which all belonged to moderate penetrance genes, were detected via Sequenom MassArray? iPLEX System in 487 breast cancer patients and 522 healthy controls. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratified analyses according to geographical region and the status of Estrogen Receptor (ER) and Progesterone Receptor (PR), were also performed. Among these 8 SNPs, 6 variants (rs1800054, rs180177102, rs180177132, CHEK21100DELC, CHEK2IVS2+1G>A, RAD50) were not polymorphisms at all. The remaining 2 variants (rs1801320 and rs6138178) did not show statistically significant differences between the case and control groups in this Han Chinese population. However, rs1801320, a variant of RAD51, shows significant association with the risk of breast cancer in Shandong population. In addition to this, rs1801320 was association with both ER-positive and PR-positive breast cancer. Meanwhile, rs6138178 on SNRPB increased the risk of breast cancer in Guangdong population, however, decreased in Shandong population. These results indicate although no breast cancer risk alleles in moderate penetrance susceptibility gene were found in present population, rs1801320 in RAD51 and rs6138178 on SNRPB are significant association with breast cancer risk in specific region. |
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Keywords:Breast cancer; moderate penetrance; Chinese Han population; susceptibility |
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