Lu Jun, Zhao Haitao, Li Sha, Tian Zhongze, Zhu Xianghui, Wang Hongyi, Fu Hua
Department of Radiotherapy, Lanzhou General Hospital of PLA 333 Binhe South Road, Lanzhou 730050, Gansu Province, PR China.
Department of Radiology, Xijing Hospital, Fourth Military Medical University 147 Changle Road, Xi'an 710032, Shaanxi Province, PR China.
Int J Clin Exp Med. 2015 Feb 15;8(2):2934-8. eCollection 2015.
Polymorphisms of DNA repair genes may affect the repair capacity of DNA damages and cause different responses towards chemotherapy. Excision repair cross-complementing group 2 (ERCC2) plays an important role in the nucleotide excision repair.
The aim of this study was to investigate the association between ERCC2 single nucleotide polymorphisms (SNPs) and the response to platinum-based chemotherapy among patients with triple negative breast cancer.
In total, 60 triple negative breast cancer patients treated with platinum-based chemotherapy were studied. The clinical, pathological and treatment data of them were collected. Sequenom's MassARRAY system was used in the detection of the SNPs of ERCC2. Finally, the association between genotypes and different clinical responses among patients was analyzed. All of the patients received a platinum-based chemotherapy for 4 cycles in median and achieved an overall response rate of 66.7%, showing a comparative good response towards platinum-based chemotherapy among triple negative breast cancer. Fifty-three of the 60 patients had got the results of ERCC2 rs1799793 polymorphisms after MassARRAY detection.
The proportion of GG genotype and GA genotype was 81.1% and 18.9% respectively. The response rate of the rs1799793 GG genotype group was 69.8%, while the GA genotype group only had a response rate of 30.0%. It turned out that the GG genotype was associated with better response towards platinum-based chemotherapy (P=0.030).
ERCC2 rs1799793 polymorphism may be associated with the clinical sensitivity of platinum-based chemotherapy and could be a potential predictive biomarker for triple negative breast cancer patients treated with platinum compounds.
DNA修复基因的多态性可能影响DNA损伤的修复能力，并导致对化疗产生不同反应。切除修复交叉互补基因2（ERCC2）在核苷酸切除修复中起重要作用。
本研究旨在探讨ERCC2单核苷酸多态性（SNP）与三阴性乳腺癌患者铂类化疗反应之间的关联。
共研究60例接受铂类化疗的三阴性乳腺癌患者。收集他们的临床、病理和治疗数据。采用Sequenom公司的MassARRAY系统检测ERCC2的SNP。最后分析患者基因型与不同临床反应之间的关联。所有患者接受铂类化疗，中位疗程为4个周期，总有效率为66.7%，表明三阴性乳腺癌患者对铂类化疗反应相对较好。60例患者中有53例经MassARRAY检测获得ERCC2 rs1799793多态性结果。
GG基因型和GA基因型的比例分别为81.1%和18.9%。rs1799793 GG基因型组的有效率为69.8%，而GA基因型组的有效率仅为30.0%。结果表明，GG基因型与铂类化疗的更好反应相关（P=0.030）。
ERCC2 rs1799793多态性可能与铂类化疗的临床敏感性相关，可能是接受铂类化合物治疗的三阴性乳腺癌患者的潜在预测生物标志物。
