The PMS2 post meiotic segregation increased 2 gene is located on chromosome number 7. The gene product of PMS2 forms a heterodimer with MLH1 that interacts with MSH2 bound to mismatched bases in DNA. MSH2 is a protein of 934 aa (100 kDa) localized to the cell nucleus. MSH2 functions as one of the four major DNA mismatch repair genes along with PMS2, MLH1 and PMS1. Mutations in these genes are associated with hereditary nonpolyposis colon cancer (HNPCC), one of the most common hereditary diseases in man. Immunohistochemistry studies have further determined that the microsatellite instability phenotype in endometrial carcinoma is linked to defects in the MLH1/PMS2 gene. Patients with colorectal carcinoma that is mismatch-repair-deficient and confirmed with immunohistochemistry (IHC) (MSH2/MSH6 negative or MLH1/PMS2 deleted) have shown objective response to PD-1 antibody, pembrolizumab (6). PD-L1 IHC test has been demonstrated to be a useful predictive marker for anti-PD-1 immunotherapy in colorectal carcinoma (7).
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