结直肠癌基因DNA甲基化标志物筛查的价值

Value of DNA methylation markers in colorectal cancer screening

结直肠癌是全球最常见的恶性肿瘤之一,通过人群早期筛查和诊断结直肠癌是疾病防治的关键.近年来发现了一系列启动子高甲基化的相关基因,在结直肠癌的发生发展中发挥着重要的作用.多数在肿瘤组织中发生高甲基化基因的启动子片段在血液、粪便标本中同样被检测到.这些高甲基化基因对结直肠癌诊断的敏感性和特异性均明显优于传统筛查指标如血癌胚抗原和粪便潜血等.本文将重点介绍目前结直肠癌基因DNA甲基化标志物筛查的研究进展以及将来可能的研究方向.

Colorectal cancer（CRC） is one of the most common malignant tumors in the world.Recognizing CRC at an early stage by population-based screening is crucial in the prevention and treatment of CRC.Numerous candidate genes,which play important roles in the development and progression of CRC,have been found to be hyper-methylated in the promoter regions in recent studies.The promoter fragments of those hyper-methylated genes in tumor tissues have also been detected in the blood and fecal specimens,with higher sensitivity and specificity than traditional markers in the screening of CRC,including carcino-embryonic antigen（CEA） and fecal occult blood test.Here,we will discuss what we have already known about the DNA methylation markers for CRC screening and the potential research direction in the future.