Polymorphisms in intron 1 of the EGFR gene in non-small cell lung cancer patients.

Polymorphisms in intron 1 of the EGFR gene in non-small cell lung cancer patients.
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DOI:
10.3892/etm.2012.681
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发表时间:
2012-11
影响因子:
2.7
通讯作者:
Fujii Y
Fujii Y
中科院分区:
医学4区
文献类型:
--
作者:
Shitara M;Sasaki H;Yokota K;Okuda K;Hikosaka Y;Moriyama S;Yano M;Kawaguchi T;Kubo A;Takada M;Kitahara N;Okumura M;Matsumura A;Iuchi K;Fujii Y

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表皮生长因子受体(EGFR)基因具有高度的多态性,其表达和活性可能受到多种多态性的影响。已经有几项研究检验了EGFR基因多态性与肺癌治疗的临床结果之间的关系;然而,其潜在的机制在很大程度上尚不清楚。本研究调查了日本非小细胞肺癌(NSCLC)患者的EGFR基因多态性及其与临床病理特征的关系。我们对274例手术治疗的非小细胞肺癌患者的表皮生长因子受体基因−216G/T、−191C/A、8227G/A、D994D和R497K的5个多态性进行了研究。采用TaqMan单核苷酸多态(SNP)基因分型方法和基于聚合酶链式反应(PCR)的方法对这些基因多态性进行分析。在我们的队列患者中,我们没有发现任何−191C/A多态的证据。我们的结果显示,内含子1的8227GA或AA型患者接受抗表皮生长因子受体治疗后,肺癌复发的预后明显好于GG型患者(p=0.0448)。其他3个SNP(−216G/T、D994D和R497K)与临床病理特征无显著相关性。EGFR基因第1内含子8227G/A多态可能与接受EGFR酪氨酸激酶抑制剂治疗的非小细胞肺癌患者的临床结局有关。
The epidermal growth factor receptor (EGFR) gene is highly polymorphic and its expression and activity may be affected by various polymorphisms. There have been several studies examining associations between EGFR polymorphisms and clinical outcome of lung cancer therapy; however, the underlying mechanism is largely unknown. The present study investigated EGFR polymorphism status and its correlation with clinicopathological features in Japanese non-small cell lung cancer (NSCLC) patients. We investigated 5 polymorphisms in the EGFR gene (−216G/T, −191C/A, 8227G/A, D994D and R497K) in 274 surgically-treated NSCLC patients. TaqMan single nucleotide polymorphism (SNP) genotyping assays and a PCR-based assay were used to analyze these polymorphisms. In our cohort of patients we did not find any evidence of the −191C/A polymorphism. Our results showed that the patients with the 8227GA or AA type in intron 1 had a significantly better prognosis with the anti-EGFR therapy than the patients with the GG type (p=0.0448) in terms of recurrence of lung cancer. No significant association was observed between 3 other SNPs (−216G/T, D994D and R497K) and clinicopathological features. The EGFR 8227G/A polymorphism in intron 1 may be associated with clinical outcome in NSCLC patients treated with EGFR tyrosine kinase inhibitors.
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发表时间: 2009-10-01
期刊: LUNG CANCER
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