Notch1基因单核苷酸多态性与乳腺癌和增生性病变的相关性研究

The study of correlation Single nucleotide polymorphismof Notch1 signal molecule in the breast cancer and hyperplasia lesions

目的:探讨Notch1基因单核苷酸多态性位点rs3124591与乳腺浸润性导管癌及乳腺导管内增生性病变的相关性。方法:采用MALDI-TOF MS方法对乳腺浸润性导管癌(IDC,n=100)、乳腺导管原位癌(DCIS,n=50)、乳腺普通型导管增生症(UDH,n=100)、以及乳腺癌旁非癌组织(BH,n=100)进行Notch1基因多态性的检测。结果:Notch1基因rs3124591位点基因型和等位基因频率在乳腺4组不同病变中均无显著性差异(P>0.05),并且与乳腺癌患者患病年龄、TNM分期、分化程度、转移程度等病理学特征无显著性差异(P>0.05),基因型频率在ER、PR(+)患者分布频率分别为23.4%、2.1%、4.3%,在ER、PR(-)患者分布频率分别为41.5%、23.4%、5.3%,分布频率在ER、PR(+)<ER、PR(-),两者之间差异有统计学意义(P<0.05)。结论:在乳腺4组不同病变中存在Notch1基因多态性,但与乳腺浸润性导管癌发生发展无关联,这表明原癌基因Notch1的低甲基化可能是导致其蛋白表达改变的原因,这在乳腺癌的发生和发展中可能具有重要意义。

Objective： To explore the relevance between the Single nucleotide polymorphism of the Notch1 geners 3124591 and breast invasive ductal carcinoma and ductal hyperplasia lesions.Methods：The Single nucleotide polymor-phism of Notch1 gene rs3124591 in human breast invasive ductal carcinoma（IDC,n=100）,ductal carcinoma in situ（DCIS,n=50）,usual ductal hyperplasia（UDH,n=100） and controls（BH,n=100） were quantitative detection byMALDI-TOF MS.Results：Our results showed that the mean The single nucleotide polymorphism of Notch1 gene rs3124591 have TTgenotype、TCgenotype and CCgenotype,There are no significant differences between genotype and allele frequencies（P〈0.05）;and in difference、TNMstage 、matastasis was no statistically significant;Genotype frequencies of Notch1 geners3124591 in ER、PR（＋） patients and ER、PR（-）patients were 23.4% 、2.1% 、4.3%,41.5% 、23.4% 、5.3%,which had statistical significance（P〈0.05）.Conclusion：These results indicated that The single nucleotide polymorphism of Notch1 gene rs3124591 in Breast cancer patients and controls are no significant differences.This inverse correlation show that the alteration of protein expression result from hypomethylation oncogene Notch1,and this change may have important significance in breast tumorigenesis and the development.