This review focuses on methods of detecting DNA-binding genomic abnormalities – particularly immunohistochemistry, and updates recommendations, guidelines, and expert opinion. Many studies show that the detection of genomic defects in DNA MMR (dMMR)/microsatellite instability (MSI) has important implications for many types of cancer. We can detect MSI by PCR, immunohistochemistry (IHC) test to detect DNA MMR (MLH1, MSH2, MSH6 and PMS2) or NGS. An updated and recommended evidencebased practice guide for testing for MMR and MSI status that will help pathologists use the best testing methods to better identify and evaluate patients with cancer who may be eligible for immunotherapies known as checkpoint. The latest updates CAP guidelines for testing for MMR and three good practice statements grounded in reviewed clinical evidence to specify which assay pathologists and oncologists should use to assess microsatellite instability (MSI)-high or mismatch repair (MMR) status. The recommendations impact testing for patients with colorectal, endometrial, gastroesophageal, small bowel, and other types of cancer. In addition, it provides guidance on the role of tumor mutational burden in MMR testing and the evaluation for Lynch Syndrome.
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