Screening for Microsatellite Instability in Colorectal Cancer and Lynch Syndrome - A Mini Review

Minhua Wang, Kazunori Kanehira, Frank Chen

Abstract


Colorectal cancers with high frequency microsatellite instability (MSI-H) account for 15-20% of all colorectal cancers (CRC).  The familial form of MSI-H CRC is Lynch syndrome, caused by germline mutation in mismatch repair (MMR) genes, accounting for 3-5% of all CRC.  Universal screening in newly diagnosed colorectal cancers is recommended by many experts.  MSI status is a marker of prognosis and a predictive factor of response to chemotherapy and immunotherapy.  MSI DNA testing and immunohistochemical study for MMR proteins are commonly used screening tools, both with high sensitivity and specificity.  IHC is an easily accessible and cost effective approach with the advantage over MSI testing of being able to pinpoint the mutated gene.  It is widely used as an initial primary test for detection of MSI-H tumors.


Keywords


colorectal cancer, microsatellite instability, MSI, Lynch Syndrome, MLH1, MSH2, MSH6, PMS2

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References


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