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目的总结近年来对成纤维细胞生长因子4型受体(fibroblast growth factor 4receptor,FGFR4)基因多态性与乳腺癌相关性的研究进展。方法应用PubMed及CNKI期刊全文数据库检索系统,以“FGFR4、FGFR4多态性、FGFR4乳腺癌”为关键词,检索1991-01-2014-03相关文献。共检索到英文文献478条,中文文献105条。纳入标准:1)FGFR4基因及其编码蛋白质特性;2)FGFR4与乳腺癌的相关性;3)FGFR4基因多态性与乳腺癌发病风险的关系;4)FGFR4基因多态性与乳腺癌病理特征,化疗敏感度及预后的关系。剔除标准:1)FGFR4基因多态性与其他恶性肿瘤相关性的研究;2)有关FGFR4综述类文献。根据纳入标准和剔除标准最终分析35篇文献,并加入早期原始文献1篇。结果 FGFR4在细胞增殖和分化中起重要作用,其基因具有遗传多态性。FGFR4基因多态性并不增加乳腺癌的发病风险,但与乳腺癌的恶性程度及淋巴结转移情况等病理特征密切相关。FGFR4基因突变的乳腺癌患者对化疗不敏感,并且预后较差。结论 FGFR4基因多态性与乳腺癌患者预后密切相关,但是一些结论具有不一致性。进一步通过大样本分层分析结合基因组多位点关联研究来验证FGFR4基因多态性与乳腺癌的相关性,并对FGFR4基因突变或者扩增的患者应用FGFR4抑制剂进行分子靶向治疗,将会使一部分患者获益。
Objective To summarize the recent progress in the study of the relationship between the polymorphism of fibroblast growth factor 4 receptor (FGFR4) and breast cancer. Methods The PubMed and CNKI journal full - text database search system was used to search the relevant literature from January 1991 to December 2014 with the keywords of “FGFR4, FGFR4 polymorphism, FGFR4 breast cancer”. A total of 478 English articles and 105 Chinese articles were retrieved. Inclusion criteria: 1) FGFR4 gene and its encoded protein characteristics; 2) FGFR4 and breast cancer; 3) FGFR4 gene polymorphism and breast cancer risk; 4) FGFR4 gene polymorphism and breast cancer pathological features , Chemotherapy sensitivity and prognosis. Exclusion criteria: 1) FGFR4 gene polymorphism and other malignant tumor research; 2) FGFR4 review literature. According to the inclusion criteria and the exclusion criteria, 35 papers were finally analyzed and 1 early original was added. Results FGFR4 plays an important role in cell proliferation and differentiation, and its gene has genetic polymorphism. FGFR4 gene polymorphism does not increase the risk of breast cancer, but with breast cancer and lymph node metastasis and other pathological features are closely related. Patients with FGFR4-mutated breast cancer are not sensitive to chemotherapy and have a poor prognosis. Conclusion FGFR4 gene polymorphism is closely related to the prognosis of patients with breast cancer, but some of the conclusions are inconsistent. We further verified the association between FGFR4 gene polymorphism and breast cancer through large sample stratification combined with multi-locus genomic association studies and molecular targeted therapy with FGFR4 inhibitors in patients with mutations or amplifications of FGFR4 gene To benefit some patients.