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本文引用的文献

1
Polymorphisms of EGFR predict clinical outcome in advanced non-small-cell lung cancer patients treated with Gefitinib.表皮生长因子受体(EGFR)的多态性可预测接受吉非替尼治疗的晚期非小细胞肺癌患者的临床结局。
Lung Cancer. 2009 Oct;66(1):114-9. doi: 10.1016/j.lungcan.2008.12.025. Epub 2009 Feb 6.
2
Silent polymorphisms speak: how they affect pharmacogenomics and the treatment of cancer.沉默多态性的启示:它们如何影响药物基因组学及癌症治疗
Cancer Res. 2007 Oct 15;67(20):9609-12. doi: 10.1158/0008-5472.CAN-07-2377.
3
Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure.人类儿茶酚-O-甲基转移酶单倍型通过改变mRNA二级结构来调节蛋白质表达。
Science. 2006 Dec 22;314(5807):1930-3. doi: 10.1126/science.1131262.
4
A "silent" polymorphism in the MDR1 gene changes substrate specificity.MDR1基因中的一种“沉默”多态性改变了底物特异性。
Science. 2007 Jan 26;315(5811):525-8. doi: 10.1126/science.1135308. Epub 2006 Dec 21.
5
Molecular predictors of outcome with gefitinib in a phase III placebo-controlled study in advanced non-small-cell lung cancer.一项针对晚期非小细胞肺癌的III期安慰剂对照研究中吉非替尼治疗结果的分子预测指标
J Clin Oncol. 2006 Nov 1;24(31):5034-42. doi: 10.1200/JCO.2006.06.3958.
6
Novel heteroduplex method using small cytology specimens with a remarkably high success rate for analysing EGFR gene mutations with a significant correlation to gefitinib efficacy in non-small-cell lung cancer.使用小细胞标本的新型异源双链法分析表皮生长因子受体(EGFR)基因突变成功率极高,与非小细胞肺癌中吉非替尼疗效显著相关。
Br J Cancer. 2006 Oct 23;95(8):1070-5. doi: 10.1038/sj.bjc.6603396.
7
DNA-repair gene polymorphisms predict favorable clinical outcome among patients with advanced squamous cell carcinoma of the head and neck treated with cisplatin-based induction chemotherapy.DNA修复基因多态性可预测接受顺铂诱导化疗的晚期头颈部鳞状细胞癌患者的良好临床结局。
J Clin Oncol. 2006 Sep 10;24(26):4333-9. doi: 10.1200/JCO.2006.05.8768. Epub 2006 Aug 8.
8
Factors predicting response to EGFR tyrosine kinase inhibitors.预测表皮生长因子受体酪氨酸激酶抑制剂反应的因素。
Semin Respir Crit Care Med. 2005 Jun;26(3):314-22. doi: 10.1055/s-2005-871990.
9
Drug targeting: is race enough?药物靶向:种族因素足够吗?
Nature. 2005 Jun 23;435(7045):1008-9. doi: 10.1038/4351008a.
10
Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer.非小细胞肺癌中表皮生长因子受体基因、蛋白与吉非替尼敏感性
J Natl Cancer Inst. 2005 May 4;97(9):643-55. doi: 10.1093/jnci/dji112.

[表皮生长因子受体(EGFR)基因rs2293347多态性对吉非替尼治疗非小细胞肺癌患者临床疗效的影响]

[Effect of rs2293347 Polymorphism in EGFR on the Clinical Efficacy of Gefitinib 
in Patients with Non-small Cell Lung Cancer].

作者信息

Ma Fei, Xu Binghe, Lin Dongxin, Sun Tong, Shi Yuankai

机构信息

Department of Medical Oncology, Cancer Institute & Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing 100021, China.

出版信息

Zhongguo Fei Ai Za Zhi. 2011 Aug;14(8):642-5. doi: 10.3779/j.issn.1009-3419.2011.08.02.

DOI:10.3779/j.issn.1009-3419.2011.08.02
PMID:21859544
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5999630/
Abstract

BACKGROUND

Genetic variations of the epidermal growth factor receptor (EGFR) may alter the protein function and therapeutic efficacy of EGFR inhibitors. The aim of this study is to investigate the association between single nucleotide polymorphism rs2293347 in EGFR and the clinical outcome in patients with advanced non-small cell lung cancer (NSCLC) treated with gefitinib.

METHODS

A total of 88 advanced NSCLC patients treated with gefitinib were analyzed in the present study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was conducted to analyze the genotype. The association study was performed between genotypes and clinical efficacy among 88 patients.

RESULTS

rs2293347 was associated with the efficacy of gefitinib. The response rate for the rs2293347 GG was significantly higher than that for the GA or AA (71.4% vs 36.0%, P=0.002). rs2293347 GG genotype was also associated with longer progression-free survival compared with GA or AA genotype (10 months vs 3 months, P=0.005). No significant difference was shown on the overall survival (OS) (P=0.409).

CONCLUSIONS

rs2293347 polymorphism in exon 25 is associated with the clinical efficacy of gefitinib and may be a potential biomarker to predict the clinical outcome in advanced NSCLC patients treated with gefitinib.

摘要

背景

表皮生长因子受体(EGFR)的基因变异可能会改变EGFR抑制剂的蛋白质功能和治疗效果。本研究旨在探讨EGFR单核苷酸多态性rs2293347与接受吉非替尼治疗的晚期非小细胞肺癌(NSCLC)患者临床结局之间的关联。

方法

本研究共分析了88例接受吉非替尼治疗的晚期NSCLC患者。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析基因型。对88例患者的基因型与临床疗效进行关联研究。

结果

rs2293347与吉非替尼的疗效相关。rs2293347 GG基因型的缓解率显著高于GA或AA基因型(71.4%对36.0%,P = 0.002)。与GA或AA基因型相比,rs2293347 GG基因型也与更长的无进展生存期相关(10个月对3个月,P = 0.005)。总生存期(OS)无显著差异(P = 0.409)。

结论

第25外显子中的rs2293347多态性与吉非替尼的临床疗效相关,可能是预测接受吉非替尼治疗的晚期NSCLC患者临床结局的潜在生物标志物。