2008 年 52 巻 4 号 p. 189-192
DNA methylation plays an important role in silencing cancer related genes. Recent studies have revealed that genes involved in cell cycle regulation, apoptosis, DNA repair, invasion, metastasis, and immune response, are shown to be aberrantly methylated in cancers. Subsets of cancers show simultaneous methylation of multiple genes, indicating that these tumors have CpG island methylator phenotype (CIMP). Colorectal and gastric cancers with CIMP show distinct clinicopathological features, and appear to be caused by increased rate of de novo methylation. DNA methylation changes can be detected with a high degree of sensitivity, and can potentially be important for diagnosis of cancer. Various types of cancer can be detected by analyzing methylation in DNA obtained from serum, stool, and pancreatic juice. Because DNA methylation is an epigenetic change, expression of silenced genes can be reversed by treating cells with DNA methyltransferase inhibitors such as 5-aza-2'-deoxycytidine (decitabine).