Sieber O M, Tomlinson I P, Lamlum H
Molecular and Population Genetics Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London, UK, WC2A 3PX.
Mol Med Today. 2000 Dec;6(12):462-9. doi: 10.1016/s1357-4310(00)01828-1.
Mutations in the adenomatous polyposis coli (APC) gene are the basis of familial adenomatous polyposis and the majority of sporadic colorectal cancer. APC is expressed in a wide variety of tissues, interacts with the cytoskeleton, is involved in regulating levels of beta-catenin and, most recently, has been shown to bind DNA, suggesting that it may possess a nuclear role. The mutation spectrum implicated in tumorigenesis and its correlation with disease phenotype is well characterized and has contributed to our understanding of important functional domains in APC. Despite these advances, APC continues to provide a fertile subject of research for both colorectal tumorigenesis and cancer in general.
腺瘤性息肉病 coli(APC)基因的突变是家族性腺瘤性息肉病和大多数散发性结直肠癌的基础。APC 在多种组织中表达,与细胞骨架相互作用,参与调节β-连环蛋白水平,并且最近已显示其可结合 DNA,这表明它可能具有核功能。与肿瘤发生相关的突变谱及其与疾病表型的相关性已得到很好的表征,并有助于我们理解 APC 中的重要功能域。尽管取得了这些进展,但 APC 仍然是结直肠癌发生以及一般癌症研究的一个丰富主题。