Prevention and Early Detection (N Arber, Section Editor)

Current Colorectal Cancer Reports

, Volume 10, Issue 1, pp 27-35

First online:

Should Microsatellite Instability Be Tested in All Cases of Colorectal Cancer?

  • Guy RosnerAffiliated withDepartment of Gastroenterology and Liver Diseases, Department of Medical Genetics, Tel-Aviv Sourasky Medical CenterSackler School of Medicine, Tel-Aviv University Email author 
  • , Hana StrulAffiliated withSackler School of Medicine, Tel-Aviv UniversityDepartment of Gastroenterology and Liver Diseases, Tel-Aviv Sourasky Medical Center

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Abstract

Colorectal cancer (CRC), a relatively frequent tumor in industrialized countries, occurs as a result of several genetic changes. Microsatellite instability (MSI) is a molecular feature that facilitates acquisition of new mutations. MSI caused by alterations in mismatch repair (MMR) genes, genes responsible for repairing DNA mismatches caused by slippage of DNA polymerase, is observed in fifteen percent of CRCs. Lynch syndrome, the most common hereditary colon cancer-genetic syndrome, is responsible for up to 5 % of CRCs and has MSI as a characteristic. When CRC occurs, MSI testing is an important step in identifying patients with Lynch syndrome. Diagnosis of Lynch syndrome has medical implications for both the affected individual and his or her family members. In addition, MSI is a prognostic and predictive factor for cancer patients. As MSI and immunostaining of MMR proteins, which seem to be similar and complementary to MSI, become widely available in pathology laboratories, use of these tests for any newly diagnosed CRC will be an option worth considering. In this review, we focus on the issue of universal MSI screening of all CRCs, irrespective of patient age, to identify more Lynch syndrome cases than are identified by well-established clinical criteria alone. We describe the growing literature in this field and discuss the potential effects of this approach on both the individual and the health-care system.

Keywords

Colorectal cancer (CRC) Lynch syndrome Mismatch repair system (MMR) Microsatellite instability (MSI) Hypermethylation Immunohistochemical staining (IHC) Universal MSI screening Prognostic marker Predictive marker MLH1 MSH2 MSH6 PMS2 BRAF Lynch-like syndrome