DNA mismatch repair (MMR) system is composed of enzyme molecules that specifically repair DNA base mismatch. The existence of this system can ensure the integrity and stability of genetic material, avoid the mutation of genetic material, and ensure the high fidelity of DNA replication. It is composed of hMLH1, hMSH2, hpms1, hPMS2 and other genes. HMSH2 is located in human chromosome 2p21-22, encoding a protein composed of 934 aa. The mutation of hMSH2 gene occurs in sporadic colorectal cancer. The mutation of microsatellite hMSH2 gene is related to 50% of familial and non-familial polyposis colorectal cancer (HNPCC).
MSH6, known as MutS homolog 6 (E.coli), is a mismatch repair gene. DNA mismatch repair is very necessary to maintain the integrity of genetic information. The change of microsatellite's reproducibility is caused by the slippage of the hinge misalignment during DNA replication, which is also called microsatellite instability. Mutant mismatch repair proteins are often expressed in patients with high frequency microsatellite instability (MSI-H), which is related to autosomal dominant inheritance, also known as hereditary nonpolyposis colorectal cancer (HNPCC), and sporadic (MSI-H) colorectal cancer. MLH1, MSH2, MSH6 antibodies can be used to screen the disease in patients and their families.
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