FGFRs家族基因多态性和表达与乳腺癌相关性研究

项目名称： FGFRs家族基因多态性和表达与乳腺癌相关性研究

项目编号： No.81202075

项目类型： 青年科学基金项目

立项/批准年度： 2013

项目学科： 肿瘤学2

项目作者： 姜永冬

作者单位： 哈尔滨医科大学

项目金额： 23万元

中文摘要： FGFRs家族基因的异常持续活化被证实参与了肿瘤的发生和发展。目前， FGFRs家族基因功能性多态与乳腺癌易感性分析及功能研究鲜见报道。课题组的前期研究结果表明：FGFRs家族的FGFR2基因多态性与中国北方汉族妇女乳腺癌发病风险相关，其蛋白过表达影响预后。在此基础上，本课题拟采用病例对照研究的方法，调查乳腺癌相关危险因素并采集外周血，应用SNaPshot技术进行基因分型，分析FGFRs家族基因功能性多态位点与乳腺癌的关系。同时收集乳腺癌组织及癌旁正常组织生物样本，应用组织芯片、原位杂交和免疫组化方法测定FGFRs家族基因mRNA和蛋白的表达情况，分析其与乳腺癌相关多态位点、临床病理特征及预后的关系。运用凝胶迁移和荧光素酶报告载体转染实验技术检测FGFRs家族基因乳腺癌相关多态位点的生物学功能。通过上述研究，为阐明乳腺癌的发病机制、筛查乳腺癌高危人群及改善患者的预后提供科学依据。

中文关键词： 乳腺癌；单核苷酸多态；肿瘤易感性；FGFRs家族基因；基因表达

英文摘要： The over-activation of the fibroblast growth factor receptors (FGFRs) family genes have been shown to be involved in the development and progression of cancer. The associations between the functional polymorphisms of FGFRs family genes and breast cancer risk, and the underlying mechanism still remain unknown. Our previous studies showed that FGFR2 polymorphism was associated with breast cancer risk in a Northern Chinese Han population. And high FGFR2 protein expressions correlated with poor prognosis in invasive ductal cancer patients. In this project, a case-control study is carried out. All the participants are interviewed to collect detailed information on breast cancer risk factors. Venous blood is collected and genotyping is analysed using the SNaPshot method. The association between FGFRs family gene polymorphisms with breast cancer is studied. The mRNA and protein expressions of FGFRs family genes are investigated by tissue microarray coupled with in situ hybridization and immune-histochemical methods respectively in the specimens of breast cancer tissues and adjacent normal tissues,. Then the associations between the mRNA and protein expressions and susceptive single nucleotide polymorphisms (SNPs) and clinical pathological datas and prognosis will be analysed. The biological functions of breast cancer s

英文关键词： Breast cancer；Single nucleotide polymorphisms；Cancer susceptibility；FGFRs family；Gene expression