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Clinical significance of tumor microsatellite instability and immunohistochemistry for mismatch repair deficiency in colorectal cancers

  • Published:
Current Colorectal Cancer Reports

Abstract

Referrals to genetics services are becoming increasingly common for patients who are diagnosed with early-onset colorectal cancer (CRC) or patients who have a family history of CRC. Microsatellite instability (MSI) testing and immunohistochemical analysis (IHC) of the patient’s tumor tissue, which assess indirectly the cellular status of DNA mismatch repair, have proven important tools for geneticists and genetic counselors to determine whether or not these individuals may be at risk for an inherited cancer syndrome, Lynch syndrome (a subset of hereditary nonpolyposis colorectal cancer). The application of tumor MSI/ IHC also extends to the group of providers involved in the diagnosis and management of CRC, demonstrating the growing clinical applicability of MSI/IHC testing. This review discusses the clinical utility of MSI/IHC analysis, including its benefits and limitations, and addresses some of the current debates surrounding testing.

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Authors and Affiliations

  1. Department of Medical Genetics, Mayo Clinic College of Medicine, 200 First Street SW, Mayo Building 7, 55905, Rochester, MN, USA

    Noralane M. Lindor MD

Authors
  1. Brittany C. Thomas MS
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  2. Stephen N. Thibodeau PhD
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  3. Noralane M. Lindor MD
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Thomas, B.C., Thibodeau, S.N. & Lindor, N.M. Clinical significance of tumor microsatellite instability and immunohistochemistry for mismatch repair deficiency in colorectal cancers. Curr colorectal cancer rep 1, 103–109 (2005). https://doi.org/10.1007/s11888-005-0006-3

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  • DOI: https://doi.org/10.1007/s11888-005-0006-3

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