MLH1

MLH1 is a core member of the human mismatch repair (MMR) system. Under normal conditions, it can bind to other MMR proteins such as MSH2, MSH6, PMS2 to form complexes, which can recognize and repair erroneous base pairing during DNA replication, effectively preventing DNA mutation and significantly reducing the risk of cellular carcinogenesis. MLH1 is one of the important biomarkers for primary screening of Lynch Syndrome in clinical practice. This is because the functional defect of MLH1 is the main cause of the Syndrome, which will significantly increase the risk of getting cancer. In addition, some research has found that the deficiency of MMR protein can induce abnormal changes in the repetitions of microsatellite sequences during microsatellite DNA replication, leading to microsatellite instability (MSI). MSI has been proven to be closely related to the occurrence and development of various malignant tumors such as gastric cancer, colorectal cancer, and endometrial cancer, indicating that MLH1 has important diagnostic and prognostic value and plays a guiding role in treatment.