论文部分内容阅读
背景与目的:DNA修复基因的多态性可以影响DNA损伤修复能力,从而影响患者的化疗疗效。切除修复交叉互补基因2(excision repair cross-complementing group 2,ERCC2)参与核苷酸切除修复和基因转录,在DNA损伤修复中起重要作用。本研究旨在初步探讨ERCC2单核苷酸多态性与三阴性乳腺癌铂类药物化疗疗效的关系。方法:全组患者中位年龄46岁,中位化疗周期数为4个周期。60例接受铂类药物化疗的晚期或局部晚期三阴性乳腺癌患者,收集其临床病理资料和随访信息,采用高通量MassARRAY时间飞行质谱生物芯片系统分析入组患者ERCC2基因候选位点的单核苷酸多态性,观察比较不同基因型与化疗疗效之间的关系。结果:接受含铂方案治疗的总体有效率为66.7%。60例中53例获得ERCC2 rs1799793位点检测结果,ERCC2rs1799793位点等位基因型有GG、GA 2种,频率分别为81.1%、18.9%。GG基因型患者化疗有效30例,无效13例;GA基因型患者化疗有效3例,无效7例。两组的化疗有效率分别为69.8%和30.0%,疗效差异有统计学意义(P=0.030),携带GG基因型的患者化疗敏感性高于携带GA基因型患者。结论:ERCC2基因rs1799793多态性与三阴性乳腺癌患者接受铂类药物化疗的临床疗效有关。
BACKGROUND & AIM: Polymorphism of DNA repair genes can affect the ability of DNA damage repair, thus affecting the chemotherapy effect of patients. Excision repair cross-complementing group 2 (ERCC2) is involved in nucleotide excision repair and gene transcription and plays an important role in DNA damage repair. The purpose of this study is to investigate the relationship between single nucleotide polymorphism of ERCC2 and the efficacy of platinum-based chemotherapy for triple-negative breast cancer. Methods: The median age of all patients was 46 years. The median number of cycles of chemotherapy was 4 cycles. Sixty patients with advanced or locally advanced triple-negative breast cancer who underwent platinum-based chemotherapy were enrolled in the study. The clinical and pathological data and follow-up information were collected. The mononuclear cells of the ERCC2 gene candidate sites were analyzed by high-throughput MassARRAY time-of-flight mass spectrometry biochip system Polymorphism, observed and compared the different genotypes and the relationship between the efficacy of chemotherapy. Results: The overall response rate to platinum-based regimens was 66.7%. The results of ERCC2 rs1799793 locus were obtained in 53 of 60 cases. There were two GG and GA alleles in ERCC2 rs1799793 locus with frequencies of 81.1% and 18.9%, respectively. Chemotherapy of GG genotype was effective in 30 cases, ineffective in 13 cases; GA genotype in patients with chemotherapy effective in 3 cases, 7 cases. The chemotherapy efficacies in the two groups were 69.8% and 30.0%, respectively, with statistically significant differences (P = 0.030). Patients with GG genotype had higher chemosensitivity than those with GA genotype. Conclusion: The rs1799793 polymorphism of ERCC2 gene is associated with the clinical efficacy of platinum-based chemotherapy in patients with triple-negative breast cancer.