与PMS2相关的错配修复缺陷
中文名称
通路描述
PMS2与MLH1异二聚体形成参与DNA错配修复的MutLα复合物。该PMS2的突变与遗传性非息肉病性结直肠癌、Turcot综合征相关，并导致室上脑皮层原始神经外胚层肿瘤。PMS2杂合截断突变在遗传性非息肉病性结直肠癌（林奇综合征、HNPCC型）家庭的较小亚群中发挥作用。PMS2突变导致微卫星不稳定性，携带者表现出微卫星不稳定性高表型，且所有肿瘤中均丢失PMS2蛋白表达。
英文描述
Defective Mismatch Repair Associated With PMS2 PMS2 heterodimerizes with MLH1 to form the MutL alpha complex involved in DNA mismatch repair. Mutations in this PMS2 are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Heterozygous truncating mutations in PMS2 play a role in a small subset of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome, HNPCC-like) families. PMS2 mutations lead to microsatellite instability with carriers showing a microsatellite instability high phenotype and loss of PMS2 protein expression in all tumors.
所含基因
1 个基因