Teufel Andreas, Staib Frank, Kanzler Stephan, Weinmann Arndt, Schulze-Bergkamen Henning, Galle Peter-R
Department of Medicine, Johannes Gutenberg University, Building 301, Langenbeckstr. 1, 55101 Mainz, Germany.
World J Gastroenterol. 2007 Apr 28;13(16):2271-82. doi: 10.3748/wjg.v13.i16.2271.
The completely assembled human genome has made it possible for modern medicine to step into an era rich in genetic information and high-throughput genomic analysis. These novel and readily available genetic resources and analytical tools may be the key to unravel the molecular basis of hepatocellular carcinoma (HCC). Moreover, since an efficient treatment for this disease is lacking, further understanding of the genetic background of HCC will be crucial in order to develop new therapies aimed at selected targets. We report on the current status and recent developments in HCC genetics. Special emphasis is given to the genetics and regulation of major signalling pathways involved in HCC such as p53, Wnt-signalling, TGFbeta, Ras, and Rb pathways. Furthermore, we describe the influence of chromosomal aberrations as well as of DNA methylation. Finally, we report on the rapidly developing field of genomic expression profiling in HCC, mainly by microarray analysis.
完整组装的人类基因组使现代医学步入了一个富含遗传信息和高通量基因组分析的时代。这些新颖且易于获取的遗传资源和分析工具可能是揭示肝细胞癌（HCC）分子基础的关键。此外，由于缺乏针对这种疾病的有效治疗方法，进一步了解HCC的遗传背景对于开发针对特定靶点的新疗法至关重要。我们报告了HCC遗传学的现状和最新进展。特别强调了参与HCC的主要信号通路的遗传学和调控，如p53、Wnt信号、TGFβ、Ras和Rb通路。此外，我们描述了染色体畸变以及DNA甲基化的影响。最后，我们报告了HCC中基因组表达谱这一快速发展领域的情况，主要是通过微阵列分析。
