PIK3CA基因突变与癌症的关系  

Relationship of the PIK3CA Gene Mutation and Cancer

作　　者：王红洁[1] 蔡蓉[1] 卢健[1] 

机构地区：[1]上海交通大学医学院生物化学与分子生物学教研室人类基因治疗中心,上海市200025

出　　处：《医学分子生物学杂志》2006年第5期347-349,共3页Journal of Medical Molecular Biology

基　　金：国家自然科学基金(No.39970311)~~

摘　　要：研究发现约30%的人类实体瘤存在PIK3CA基因的突变,导致PI3K信号途径在不同水平发生调控异常。功能和遗传学研究显示,PIK3CA是一个致癌基因,在肿瘤细胞中,其激酶活性增强,能持续刺激下游AKT,使细胞不依赖生长因子增殖,增加细胞侵袭和转移能力。因此,PIK3CA基因在肿瘤发生发展中起重要作用,是较好的干预治疗的靶点。More than 30% of various solid tumor types were recently found to have mutations in PIK3CA, the catalytic subunit of PI3K, and the PI3K signaling pathway is deregulated by a variety of mechanisms. Functional and genetic analyses of PIK3 CA mutations revealed that they increase its enzymatic activity, stimulate AKT signaling, allow growth factor-independent growth and increase cell invasion and metastasis. PIK3CA gene plays an important role in tumorigenesis and tumor progression. Better understanding of PIK3CA oncogenic mechanisms may help the development of targeted therapeutics.

关 键 词：基因突变 癌基因 蛋白质酪氨酸磷酸酶 

分 类 号：Q786[生物学—分子生物学] R730.2[医药卫生—肿瘤]