BRCA1RRM1及ERCC1基因多态性与非小细胞肺癌化疗疗效相关性分析

目的探讨BRCA1，RRM1和ERCC1基因多态性与非小细胞肺癌化疗疗效的相关性。方法选取2012年1月至2014年1月接受铂类药物化疗的晚期非小细胞肺癌（NSCLC）患者80例，应用TaqMan探针法对其BRCA1，RRM1和ERCC1基因的基因型进行分析后分组，比较不同基因型与化疗效果的关系。结果BRCA1的基因多态性与非小细胞肺癌的化疗效果呈明显相关（P〈0．05），其中携带ser1613G1y等位基因的患者治疗效果明显优于野生型（P〈0．05）；RRM1和ERCC1的基因多态性与非小细胞肺癌的化疗效果无明显相关性（P〉0．05）；BRCA1，RRM1和ERCC1三组基因存在一定的联合作用，携带变异基因数目越多的患者，化疗的效果越好（P〈0．05），但对化疗过程中Ⅲ-Ⅳ。毒副反应的发生率差异无统计学意义（P〉0．05）。结论BRCA1基因组中是否携带Ser1613Gly等位基因及_BRCA1，RRM1和ERCC1等位基因的变异数目均可影响晚期非小细胞肺癌患者对铂类化疗药物的敏感性，因此于化疗前检测患者相关基因型对治疗方案的选择意义重大。

Objective To explore the correlation of the gene polymorphism in BRCA1, RRM1 and ERCC1 allelic genes and the therapeutic effect of chemotherapy in none-small-cell lung carcinoma（NSCLC）. Methds 80 cases of later staged NSCLC who received the treatment of platinum- based chemotherapy from Jan, 2012 to Jan, 2014. TaqMan probe was applied to analyze the BRCA1, RRM1 and ERCC1 gene before dividing them into groups, the relationship of chemotherapy effects and different types of gene were compared. Results The gene polymorphism of BRCA1 was significantly correlated to the chemotherapy effects of NSCLS （P〈0.05） , among which the patients with Serl613Gly allelic genes had much better treatment results than the patients with the wild type （ P〈0.05 ） ; The gene polymorphism of RRM1 and ERCC1 had no significant correlations with the chemotherapy effects （/〉〉0.05 ） ; BRCA1, RRM1 and ERCC1 gene had certain combining effects： the patients with more mutation gene had a better chemotherapy effects （ P〈0.05 ） , but there was no significant difference for the side effect of Ⅲ-Ⅳ degree （P〉0.05 ） . Conclusions The existence of Serl 613Gly allelic genes and the number of mutation in BRCA1, RRM 1 and ERCC 1 allelic genes can both affects the sensitivity to the treatment of platinum-based chemotherapy, which makes the detection of related gene type important for choosing the right chemotherapy regimens.