Abstract：
Breast cancer risk have been discussed to be associated with polymorphisms in genes as well as abnormal DNA damage repair function. This study aims to assess the relationship between genes single nucleotide polymorphisms (SNPs) related to DNA damage repair and female breast cancer risk in Chinese population. A case-control study containing 400 patients and 400 healthy controls was conducted. Genotype was identified using the sequence MassARRAY method and expression of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor-2 (HER-2) in tumor tissues was analyzed by immunohistochemistry assay. The results revealed that ATR rs13091637 decreased breast cancer risk influenced by ER, PR (CT/TT vs. CC: adjusted odds ratio [OR] = 1.54, 95% confidence interval [CI]: 1.04-2.27, p = 0.032; CT/TT vs. CC: adjusted OR = 1.63, 95%CI: 1.14-2.35, p = 0.008) expression. Stratified analysis revealed that PALB2 rs16940342 increased breast cancer risk in response to menstrual status (AG/GG vs. AA: adjusted OR = 1.72, 95%CI: 1.13-2.62, p = 0.011) and age of menarche (AG/GG vs. AA: adjusted OR = 1.54, 95%CI: 1.03-2.31, p = 0.037), whereas ATM rs611646 and Ku70 rs132793 were associated with reduced breast cancer risk influenced by menarche (GA/AA vs. GG: adjusted OR = 0.50, 95%CI: 0.30-0.95, p = 0.033). In a summary, PALB2 rs16940342, ATR rs13091637, ATM rs611646, and Ku70 rs132793 were associated with breast cancer risk.
摘要：
已经讨论了乳腺癌风险与基因多态性以及异常的DNA损伤修复功能有关。本研究旨在评估中国人群中DNA损伤修复相关基因单核苷酸多态性(SNPs)与女性乳腺癌发病风险的关系。进行了包含400名患者和400名健康对照的病例对照研究。使用序列MassARRAY方法和雌激素受体（ER）的表达鉴定基因型，用免疫组织化学方法分析肿瘤组织中的孕激素受体（PR）和人表皮生长因子受体-2（HER-2）。结果显示，ATRrs13091637降低了受ER影响的乳腺癌风险，PR（CT/TTvs.CC：调整后比值比[OR]=1.54，95%置信区间[CI]：1.04-2.27，p=0.032；CT/TTvs.CC：校正OR=1.63，95CI：1.14-2.35，p=0.008）表达。分层分析显示，PALB2rs16940342因月经状态而增加乳腺癌风险（AG/GG与AA：调整后的OR=1.72，95CI：1.13-2.62，p=0.011）和初潮年龄（AG/GGvs.AA：调整后的OR=1.54，95CI：1.03-2.31，p=0.037），而ATMrs611646和Ku70rs132793与月经初潮影响的乳腺癌风险降低相关(GA/AA与GG：调整后的OR=0.50，95CI：0.30-0.95，p=0.033）。总之,PALB2rs16940342、ATRrs13091637、ATMrs611646和Ku70rs132793与乳腺癌风险相关。
