National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Curr Top Microbiol Immunol. 2010;347:21-41. doi: 10.1007/82_2010_68.
The involvement of the PIK3CA gene product p110α, the catalytic subunit of phosphatidylinositol 3-kinase (PI3K), in human cancer has been suggested for over 15 years, and support for this proposal had been provided by both genetic and functional studies, including most recently the discovery of common activating missense mutations of PIK3CA in a wide variety of common human tumor types. This chapter will focus on the discovery of these mutations and describes their relevance to a wide range of common human tumor types.Of note, the identification and functional analysis of the PIK3CA gene are reviewed in other chapters in this book. However, a brief mention will be made here of its general properties as background to our focus on the discovery of its cancer-specific mutations.
PIK3CA 基因产物 p110α(磷脂酰肌醇 3-激酶(PI3K)的催化亚基)参与人类癌症已有 15 年以上,遗传和功能研究都为这一观点提供了支持,包括最近在多种常见人类肿瘤类型中发现 PIK3CA 的常见激活错义突变。本章将重点介绍这些突变的发现,并描述它们与广泛的常见人类肿瘤类型的相关性。需要注意的是,PIK3CA 基因的鉴定和功能分析在本书的其他章节中进行了综述。然而,为了我们专注于发现其癌症特异性突变,这里将简要提及它的一般特性作为背景。