摘要
目的探讨乳腺癌中醌氧化还原酶1(quinone oxido reductase 1,NQO1)基因第6外显子(C609T)多态性的分布,并分析其与乳腺癌分子分型的关系。方法采用高通量Taq Man MGB实时荧光定量PCR技术对248例女性乳腺癌患者外周血中的NQO1基因C609T rs1800566位点进行基因分型检测;应用免疫组化SP法染色及FISH基因扩增技术检测ER、PR、HER-2及Ki-67的表达。结果 248例乳腺癌中,CC基因型占27.42%(68/248)、CT基因型占49.60%(123/248)、TT基因型占22.98%(57/248),符合Hardy-Weinberg遗传平衡定律(P>0.05);5例HER-2()患者未行FISH检测,予以剔除,其余行FISH检测:Luminal A型占15.2%(37/243)、Luminal B型占51.4%(125/243)、HER-2过表达型占19.8%(48/243)、基底细胞型占13.6%(33/243);携带CT和TT基因型者较携带CC基因型患者的乳腺癌组织中ER、PR阳性率明显升高(P<0.05),HER-2及Ki-67蛋白表达在两组中的差异无统计学意义(P>0.05);NQO1基因C609T多态性在不同分子分型的乳腺癌中的分布差异无统计学意义(P>0.05)。结论 NQO1基因C609T多态性与乳腺癌的分子分型无关,NQO1基因(CT+TT)在基底细胞型乳腺癌中缺失率较低,其基因多态性可为分子分型中乳腺癌的异质性提供合理解释。
Purpose To investigate the distribution of polymorphisms of quinone oxidoreductase 1（ NQO1） C609 T gene in breast cancer patients,and to analyze the relationship with breast cancer molecular subtype. Methods Genotyping of C609 T rs1800566 locus of NQO1 gene in peripheral blood of 248 cases of female breast cancer were detected using high-throughput Taq Man MGB real-time fluorescence quantitative PCR technology,while the detection of ER,PR,HER-2 and Ki-67 in cancerous tissues were used with immunohistochemical staining and FISH gene amplification. Results Among 248 cases of breast cancer patients,CC genotype accounted for 27. 42%（ 68 /248）,CT genotype accounted for 49. 60%（ 123 /248）,TT genotype accounted for 22. 98%（ 57 /248）,which consistent with Hardy-Weinberg equilibrium law genetic（ P 〉 0. 05）. 5 cases of HER-2（ ） who did not undergo FISH testing were removed,all the rest were done with FISH detection. Luminal A type accounted for 15. 2%（ 37 /243）,Luminal B type accounted for51. 4%（ 125 /243）,HER-2 overexpression type accounted for 19. 8%（ 48 /243）,basal cell type accounted for 13. 6%（ 33 /243）.Compared with patients carrying the CC genotype,ER and PR positive rates in breast cancer patients carrying CT and TT genotype was significantly higher（ P 〈 0. 05）,while there was no statistically difference on the expression of HER-2 and Ki-67 proteins in two groups（ P 〉 0. 05）. There was no statistically difference on distribution of C609 T polymorphism of NQO1 gene among different molecular subtypes of breast cancer（ P 〉 0. 05）. Conclusions Here is no relationship between C609 T polymorphism of NQO1 gene and breast cancer molecular subtype,miss rate of NQO1（ CT ＋ TT） in basal cell carcinoma is lower,and its gene polymorphism may provide the reasonable explanation to the heterogeneity of breast cancer molecular subtype.
出处
《临床与实验病理学杂志》
CAS
CSCD
北大核心
2015年第1期10-14,共5页
Chinese Journal of Clinical and Experimental Pathology
基金
桂林市科学研究与技术开发计划(20110119-1-9)
