乳腺癌易感基因单核苷酸多态性与激素受体状态关联性研究现状

目的回顾和总结国内外关于乳腺癌易感基因的单核苷酸多态性（single nucleotide polymorphism,SNP）与乳腺癌患者体内激素受体（estrogen receptor,ER）状态的关联性研究。方法应用Pubmed和CNKI期刊全文数据库检索系统,以＂乳腺癌、易感基因、单核苷酸多态性（SNP）和激素受体状态＂作为关键词,检索2009-01-2014-05相关文献。纳入标准：1）乳腺癌易感基因位点的相关研究和进展;2）乳腺癌易感基因的SNP和激素受体状态的研究现状和进展;根据纳入标准,符合分析的文献共42篇。结果一些易感基因位点的SNP与激素受体阳性乳腺癌易感性相关,如FGFR2、MP3K1的1p11.2等;而另一些位点如19p13.11和8q24的基因多态性则与激素受体阴性乳腺癌的发病相关;TOX3基因多态性则与激素受体阳性及阴性乳腺癌的发病均相关,且与ER阳性乳腺癌的发病相关性更强。因为乳腺癌的发生和发展是多基因多阶段协同作用的结果,在不同种族、不同地区、不同环境中所开展的研究,不同的SNP位点对乳腺癌的患病风险及激素受体状态的影响不尽相同。结论激素受体状态在乳腺癌的免疫分型中起主要作用,研究乳腺癌易感基因的SNP与激素受体状态的关联性,有助于进一步了解乳腺癌的发病机制、肿瘤转归,有望在关于SNP与乳腺癌分子分型的相关研究上取得新的突破。

Current situation of related researches between single nucleotide polymorphisms in susceptible genes loci and estrogen receptor status ob breast cancer

OBJECTIVE To review and summarize the studies and developments emphasized on the association a- mong the single nucleotide polymorphisms in susceptible genes that are associated with estrogen receptor status in breast cancer in domestic and foreign areas. METHODS Eligible literatures published from January 2009 to the end of May 2014 were identified by a search of PUBMED and CNKI （China National Knowledge Infrastructure） databases using combinations of the following keywords.. ＂breast cancer, susceptible genes, single nucleotide polymorphisms （SNPs） and estrogen receptor status＂. Inclusion oriteria： 1）About the susceptible genes loci that is associated with breast cancer risk, 2） study of single nucleotide polymorphisms among susceptible genes loci which is associated with ER-status. According to the inclusion criteria, 42 literatures were eligible for analysis. RESULTS The associations for some SNPs among the susceptible genes that are associated with the breast cancer risks are differed by estrogen receptor status （ER-status）. For example, some SNPs in FGFR2 and MP3K1 are associated with ER-positive breast cancer, whereas some SNPs located in 19p13. 11 and 8q24 are associated with ER-negative breast cancer. TOX3 gene polymorphism is associated with both ER-positive and negative breast cancer, while the correlation is stronger in ER-positive breast cancer. The occurrence and development of breast cancer are results of multi-gene and multistage, the researches carried out in different races, different regions, different environments, the effects of SNP of different sites on the risks of breast cancer and hormone receptor status are different. CONCLUSIONS Estrogen receptor status play major roles in immunophenotype of breast cancer. To study the correlation between SNPs and estrogen receptor status in breast cancer is helpful to understand the pathogenesis and the prognosis of breast cancer, by which we can achieve new breakthrough in researches on the association between SNPs and molecular c