In order to inform therapy options, Molecular Diagnostics phenotyping of malignancies is crucial in addition to genetic germline testing. Colon tumour tissues that have been stored can be tested for MSI to identify cancers caused by flaws in mismatch repair. Additionally, loss of immunohistochemical staining for any of the four proteins (MLH1, PMS2, MSH2, MSH6) necessary for mismatch repair may offer comparable data. Studies have shown that the MSI status of a colon tumour predicts how well it will respond to chemotherapy based on the drug 5-fluorouracil. More recently, it has been demonstrated that immune checkpoint inhibition therapy is very effective against mismatch repair-deficient cancers because of their high load of somatic mutations and tumour neoantigens.
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