Schubbert Suzanne, Shannon Kevin, Bollag Gideon
Department of Pediatrics, University of California, 513 Parnassus Avenue, Room HSE-302, San Francisco, California 94143, USA.
Nat Rev Cancer. 2007 Apr;7(4):295-308. doi: 10.1038/nrc2109.
Ras genes are the most common targets for somatic gain-of-function mutations in human cancer. Recently, germline mutations that affect components of the Ras-Raf-mitogen-activated and extracellular-signal regulated kinase kinase (MEK)-extracellular signal-regulated kinase (ERK) pathway were shown to cause several developmental disorders, including Noonan, Costello and cardio-facio-cutaneous syndromes. Many of these mutant alleles encode proteins with aberrant biochemical and functional properties. Here we will discuss the implications of germline mutations in the Ras-Raf-MEK-ERK pathway for understanding normal developmental processes and cancer pathogenesis.
Ras基因是人类癌症中体细胞功能获得性突变最常见的靶点。最近，研究表明影响Ras-Raf-丝裂原活化及细胞外信号调节激酶激酶（MEK）-细胞外信号调节激酶（ERK）通路成分的种系突变会导致多种发育障碍，包括努南综合征、科斯特洛综合征和心面皮肤综合征。这些突变等位基因中的许多编码具有异常生化和功能特性的蛋白质。在这里，我们将讨论Ras-Raf-MEK-ERK通路中的种系突变对于理解正常发育过程和癌症发病机制的意义。
