Current Colorectal Cancer Reports

, Volume 1, Issue 2, pp 103–109

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

  • Brittany C. Thomas
  • Stephen N. Thibodeau
  • Noralane M. Lindor
Article

DOI: 10.1007/s11888-005-0006-3

Cite this article as:
Thomas, B.C., Thibodeau, S.N. & Lindor, N.M. Curr colorectal cancer rep (2005) 1: 103. doi:10.1007/s11888-005-0006-3
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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.

Copyright information

© Current Science Inc. 2005

Authors and Affiliations

  • Brittany C. Thomas
  • Stephen N. Thibodeau
  • Noralane M. Lindor
    • 1
  1. 1.Department of Medical GeneticsMayo Clinic College of MedicineRochesterUSA