作者: KOUJI BANNO , IORI KISU , MEGUMI YANOKURA , KOSUKE TSUJI , KENTA MASUDA
关键词:
摘要: Epimutation is defined as abnormal transcriptional repression of active genes and/or activation usually repressed caused by errors in epigenetic gene repression. arises somatic cells and the germline, constitutional epimutation may also occur. first step tumorigenesis can be a direct cause carcinogenesis. Cancers associated with include Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC), chronic lymphocytic leukemia, breast cancer ovarian cancer. has been shown for many tumor suppressor genes, including RB, VHL, hMLH1, APC BRCA1, sporadic cancers. Methylation recently DNA from normal tissues peripheral blood cases studies show constitutive mismatch repair (MMR) (BRCA1, hMLH1 hMSH2) involved development familial cancers found. These results have led to focus on novel oncogenic mechanism.