EGFR 基因突变及其检测方法的研究进展.pdf

分子诊断与治疗杂志 2011 年 1 月第 3 卷第 1 期 J Mol Diagn Ther, January 2011, Vol. 3 No. 1 ·51·
•综述•
EGFR 基因突变及其检测方法的研究进展
高云 1 陈嘉昌 2 朱振宇 1 彭焕玉 2
[ 摘要] 表皮生长因子受体(EGFR)属于酪氨酸激酶受体,它介导的信号转导途径调节细胞的生
长、增殖和分化。在癌症中发现 EGFR 酪氨酸激酶区常发生各种突变,这些突变和酪氨酸激酶抑制剂的疗
效密切相关。因此,EGFR 突变的检测对癌症的个体化治疗具有重要的参考价值。目前常用的 EGFR 突
变检测方法有测序法、PCR-SSCP、突变体富集 PCR、ARMS、微数字 PCR、HRM、DHPLC。
[ 关键词] EGFR;突变;检测
EGFR mutation and the advanced research on its detection methods
GAO Yun1, CHEN Jiachang2, ZHU Zhenyu1, PENG Huanyu2
( School of Medcine, Sun Yat-sen University, Guangdong, Guangzhou 510080, China; Gene
Diagnostic Center of Sun Yat-sen University, Guangdong, Guangzhou 510665, China)
[ABSTRACT] Epidermal growth factor receptor(EGFR) is a tyrosine kinase receptor. Epidermal growth
factor receptor-mediated signal transduction pathway can regulate cell growth, proliferation and differentiation.
Kinds of mutations in the area of tyrosine kinase have been found in cancer, which are highly correlated with
the clinical response to tyrosine kinase inhibitor. So the detection of EGFR mutations has much reference value
to individualized therapy. At present, the usually detection methods of EGFR include sequencing, PCR-SSCP,
mutant-enriched PCR, ARMS, microfluidics digital PCR, HRM, DHPLC, and so on.
[KEY WORDS] EGFR; Mutation; Detection
EGFR 已成为近年来肿瘤治疗研究和抗肿瘤药(HER4)。
物筛选的热点, 有关 EGFR