Chen Ji-Jun, Wang Ai-Qin, Chen Qing-Qi
Research & Development, Allonger LLC, Columbia 21045, MD, USA.
Mei Chen Biotechnology Co. Ltd., Qingdao 266012, China.
Cancer Biol Med. 2017 Feb;14(1):42-49. doi: 10.20892/j.issn.2095-3941.2016.0082.
Colorectal carcinoma (CRC) is a common cause of morbidity and mortality worldwide. Two pathogenic pathways are involved in the development of adenoma to CRC. The first pathway involves characterized by chromosomal instability resulting in the accumulation of mutations. The second pathway is characterized by lesions in. Aberrant DNA methylation in selected gene promoters has emerged as a new epigenetic pathway in CRC development. CRC screening is the most efficient strategy to reduce death. Specific DNA methylation events occur in multistep carcinogenesis. Epigenetic gene silencing is a causative factor of CRC development. DNA methylations have been extensively examined in stool from CRC and precursor lesions. Many methylated genes have been described in CRC and adenoma, although no definite DNA methylation biomarkers panel has been established. Multiple DNA methylation biomarkers, including secreted frizzled-related protein 2, secreted frizzled-related protein 1, tissue factor pathway inhibitor 2, vimentin, and methylguanine DNA methyltransferase, have been further investigated, and observations have revealed that DNA methylation biomarkers exhibit with high sensitivity and specificity. These markers may also be used to diagnose CRC and adenoma in early stages. Real time polymerase chain reaction (qPCR) is sensitive, scalable, specific, reliable, time saving, and cost effective. Stool exfoliated markers provide advantages, including sensitivity and specificity. A stool qPCR methylation test may also be an enhanced tool for CRC and adenoma screening.
结直肠癌（CRC）是全球发病和死亡的常见原因。腺瘤发展为CRC涉及两条致病途径。第一条途径的特征是染色体不稳定导致突变积累。第二条途径的特征是……中的病变。特定基因启动子中的异常DNA甲基化已成为CRC发展中的一种新的表观遗传途径。CRC筛查是降低死亡率的最有效策略。特定的DNA甲基化事件发生在多步骤致癌过程中。表观遗传基因沉默是CRC发展的一个致病因素。已对CRC及其前体病变粪便中的DNA甲基化进行了广泛研究。尽管尚未建立明确的DNA甲基化生物标志物组，但在CRC和腺瘤中已描述了许多甲基化基因。包括分泌型卷曲相关蛋白2、分泌型卷曲相关蛋白1、组织因子途径抑制剂2、波形蛋白和甲基鸟嘌呤DNA甲基转移酶在内的多种DNA甲基化生物标志物已得到进一步研究，观察结果表明，DNA甲基化生物标志物具有高灵敏度和特异性。这些标志物还可用于早期诊断CRC和腺瘤。实时聚合酶链反应（qPCR）灵敏、可扩展、特异、可靠、省时且经济高效。粪便脱落标志物具有灵敏度和特异性等优势。粪便qPCR甲基化检测也可能是CRC和腺瘤筛查的一种增强工具。
