新疆汉族妇女早发性乳腺癌与乳腺癌易感基因1交互作用蛋白1基因多态性的关系  

Association between polymorphism of breast cancer susceptibility gene 1 interacting protein C - ter- minal helicase 1 and early - onset breast cancer in Xinjiang women of Han nationality

作　　者：吴军[1] 王晓丽[1] 孙刚[1] 马斌林[1] 

机构地区：[1]新疆医科大学附属肿瘤医院乳腺头颈外科,乌鲁木齐830011

出　　处：《中华实验外科杂志》2015年第8期1966-1969,共4页Chinese Journal of Experimental Surgery

基　　金：新掘自治区教育厅高校科研计划项目（XJEDU2011131）;乌鲁木齐市高新技术产业开发区科研计划项目（Y2011025）;国家自然科学基金资助项目（81360391）

摘　　要：目的探讨乳腺癌易感基因l（BRCAl）交互作用蛋白1（BRIPl）基因多态性与新疆汉族早发性乳腺癌的关系。方法用直接测序法及Snapshot技术分别对新疆80例汉族乳腺癌（年龄≤40岁）和240例汉族健康女性（年龄≤40岁）进行外显子基因检测分析。结果（1）rs4986764似点CC[优势比（OR）=0．094]、显性模型TC＋CC（OR=0．130）均可降低乳腺癌的发病风险（P〈0．（15），此位点的保护作用在无肿瘤家族史者中更明显（P〈0．01，OR=0．079）。（2）rM986765、n587A〉G位点突变在病例、对照组间差异均无统计学意义（P〉0．05）。结论BRIPl基因rs4986764突变降低新疆汉族早发性乳腺癌的发病风险，无肿瘤家族史可增加此位点的保护作用；rs4986765、c．587A〉G位点突变与新疆汉族早发性乳腺癌无明显相关。Objective To investigate the association between single nucleotide polymorphisms of breast cancer susceptibility gene 1 （ BRCA1 ） interacting protein C - terminal helicase 1 （ BR1P1 ） gene and early -onset breast cancer in HaM nationality women in Xinjiang. Methods The BRIP1 gene exon sites were detected analyzed by DNA direct sequencing method and Snapshot genotyping technology in 80 cases of early - onset breast cancer and 240 normal cases of HaM nationality women （ ≤40 years）. Results （ 1 ） CC [ odds ratio （OR） = 0. 094）, and dominant model TC ＋ CC （OR = 0. 130 ） of rs4986764 site significantly reduced the risk of breast cancer （P 〈 0.05 ）. Stratified analysis indicated that the protective effect of rs4986764 was more evident in subjects with negalive family history of cancer （P 〈 0. 01, OR = 0. 079）. rs4986765, and mutation of c. 587A 〉 G sites showed no statistically significant difference between case and control groups. Conclusion Variant of rs4986764 of BRIPI gene is associated with significantly re- duced risk of earlyonset breast cancer in HaM nationality women in Xinjiang. Negative family history of cancer can enhance the protective effect of mutant allele, rs4986765, and mutation of c. 587A 〉 G had no significant association with risk of early - onset breast cancer in HaM nationality women in Xinjiang.

关 键 词：乳腺癌易感基因1交互作用蛋白1 单核苷酸多态性 遗传易感性 早发性乳腺癌 

分 类 号：R737.9[医药卫生—肿瘤]