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Annals of Oncology 12:151-160, 2001
© 2001 European Society for Medical Oncology

review-article

Microsatellite instability: Application in hereditary non-polyposis colorectal cancer

P. Saletti1,, I. Dove Edwin2, K. Pack2, F. Cavalli1 and W. S. Atkin2

1Istituto Oncologico della Svizzera Italiana, Oncologia medica Ospedale S. Giovanni, Bellinzona. Switzerland
2Imperial cancer Research Fund, Colorectal Cancer Unit, St. Mark's Hospital Harrow, UK

Istituto Oncologico della Svizzera Italiana Oncologia Medica, Ospedale S. Giovanni Bellinzona 6500 Switzerland

Colorectal cancer (CRC) is a significant cause of mortality in Western populations. About 15% of CRC patients report a family history of the disease. Studies on individuals with a genetic predisposition to CRC have been responsible for significant advances in the understanding of this disease. Thus, although developments in molecular biology have been mainly restricted to a minority of individuals with a hereditary background, information obtained from this group may affect the diagnosis and therapy of sporadic CRCs as well.

Deficiency in the DNA mismatch repair (MMR) system results in microsatellite instability (MSl). Individuals from hereditary non-polyposis colorectal cancer (HNPCC) kindreds with germline mutations in genes involved in MMR may benefit from clinical screening programs. The higher frequency of MSI in HNPCC than in sporadic tumours suggests that involvement of MMR genes in sporadic adenomas may be uncommon. Consequently, MSI in adenornas could be a useful tool for HNPCC screening in the general population. Moreover, information gained from this subset of patients may aid in selecting appropriate endoscopic surveillance regimens, and in predicting the prognosis and response to treatment in patients with sporadic CRC exhibiting MSI.

The purpose of this review is to discuss MSI and its clinical applications in colorectal malignancies, focusing on the HNPCC syndrome.

colorectal cancer, HNPCC, microsatellite instability, mismatch repair, tumorigenesis


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