与MSH2相关的错配修复缺陷
中文名称
通路描述
MSH2与大肠杆菌MutS基因同源，参与DNA错配修复（MMR）（Fishel et al., 1994）。MSH2基因杂合突变导致遗传性非息肉病性结直肠癌1型。MSH2的变体与遗传性非息肉病性结直肠癌相关。MSH2的改变也与穆伊-托雷综合征和错配修复癌症综合征有关。
英文描述
Defective Mismatch Repair Associated With MSH2 MSH2 is homologous to the E. coli MutS gene and is involved in DNA mismatch repair (MMR) (Fishel et al., 1994). Heterozygous mutations in the MSH2 gene result in hereditary nonpolyposis colorectal cancer-1. Variants of MSH2 are associated with hereditary nonpolyposis colorectal cancer. Alteration of MSH2 is also involved in Muir-Torre syndrome and mismatch repair cancer syndrome.
所含基因
2 个基因