摘要
目的 探讨ERCC2基因rs3916840C/T、rs1799793G/A和rs238416G/A多态性在乳腺癌分子病理诊断中的应用价值。方法 应用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP）法比较101例乳腺癌和101例正常对照组中ERCC2基因rs3916840、rs1799793和rs238416位点的多态性分布与乳腺癌易感性及临床病理特征之间的关系。结果 rs3916840位点的多态性分布与肿瘤大小显著相关（P=0.049）;rs1799793位点的多态性分布与乳腺病理组织PR状态（P=0.037）及三阴性乳腺癌（P=0.037）显著相关,rs238416位点的多态性分布与p53蛋白表达显著相关,p53蛋白阳性的乳腺癌患者所携带的GA基因型频率显著低于p53阴性乳腺癌患者（P=0.026）。缺失rs238416位点基因型GA的个体患乳腺癌的风险增加0.287倍（P〈0.001,95%CI：0.153～0.537）,rs3916840和rs1799793位点多态性分布与乳腺癌的发病风险无关（P〉0.05）。结论 rs3916840、rs1799793和rs238416位点的多态性分布分别与肿瘤大小、PR状态、三阴性乳腺癌以及p53蛋白表达相关,检测ERCC2基因的多态性在乳腺癌的早期诊断及预后中具有一定的应用价值。
Purpose To evaluate the application value of ERCC2 gene polymorphism （rs3916840 C/T, rs1799793 G/A and rs238416 G/A） detection in molecular pathological diagnosis of breast cancer. Methods The polymorphisms of ERCC2 （rs3916840, rs1799793 and rs238416） were determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） assay in 101 patients with breast cancer and in 101 cancer-free controls. Results Analysis of the data showed a 0. 287-fold increased risk of breast cancer due to the deletion of genotype GA at rs238416 （P 〈0. 001, 95% （21： O. 153 N O. 537）. However, polymorphisms of rs3916840 and rs1799793 were not associated with breast cancer risk （P 〉 0. 05）. Furthermore, Heterozygous genotype of rs3916840 was significantly associated with tumor size （ P = 0. 049）, heterozygous genotype of rs1799793 was significantly associated with PR sta- tus and triple negative breast cancer （ P = 0. 037 ）. Remarkably, the genotype frequency of GA in p53-positive patients was lower than that in p53-negiative patients （P = 0. 026）. Conclusions These results indicate that the polymorphism of rs238416 of ERCC2 is sig- nificantly associated with breast cancer risk. Tumor size, PR status, triple negative breast cancer, and p53 protein expression are asso- ciated with polymorphisms of ERCC2 （rs3916840, rs1799793 and rs238416） respectively. ERCC2 gene polymorphism detection is useful for the early diagnosis and prognosis evaluation of breast cancer.
出处
《临床与实验病理学杂志》
CAS
CSCD
北大核心
2015年第3期277-281,共5页
Chinese Journal of Clinical and Experimental Pathology
基金
甘肃省科技支撑计划(1011FKCA089)
