结直肠癌：信号通路中的突变

Colorectal cancer: mutations in a signalling pathway.

作者信息

Parsons D Williams, Wang Tian-Li, Samuels Yardena, Bardelli Alberto, Cummins Jordan M, DeLong Laura, Silliman Natalie, Ptak Janine, Szabo Steve, Willson James K V, Markowitz Sanford, Kinzler Kenneth W, Vogelstein Bert, Lengauer Christoph, Velculescu Victor E

机构信息

The Sidney Kimmel Comprehensive Cancer Center and The Howard Hughes Medical Institute, The Johns Hopkins University Medical Institutions, Baltimore, Maryland 21231, USA.

出版信息

Nature. 2005 Aug 11;436(7052):792. doi: 10.1038/436792a.

DOI:10.1038/436792a

PMID:16094359

Abstract

Protein kinases are enzymes that are important for controlling cellular growth and invasion, and their malfunction is implicated in the development of some tumours. We analysed human colorectal cancers for genetic mutations in 340 serine/threonine kinases and found mutations in eight genes, including in three members of the phosphatidylinositol-3-OH kinase (PI(3)K) pathway. The discovery of this mutational activation of a key cell-signalling pathway may provide new targets for therapeutic intervention.

摘要

蛋白激酶是对控制细胞生长和侵袭很重要的酶，其功能异常与某些肿瘤的发生有关。我们分析了340种丝氨酸/苏氨酸激酶的基因突变情况，在人类结直肠癌中发现了8个基因的突变，其中包括磷脂酰肌醇-3-羟基激酶（PI(3)K）途径的三个成员。这一关键细胞信号通路的突变激活的发现可能为治疗干预提供新的靶点。