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Updated: Aug 19, 2026

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
Published on: July 29, 2010
Pathogenesis and clinical management of hereditary non-polyposis colorectal cancer
D A Lawes1, S B SenGupta, P B Boulos
1Academic Department of Surgery, University College London, Second Floor, Charles Bell House, 67-73 Riding House Street, London W1W 7EJ, UK.
Background:
Hereditary non-polyposis colorectal cancer (HNPCC) is an inherited genetic condition associated with microsatellite instability; it accounts for around 5 per cent of all cases of colorectal cancer. This review examines recent data on management strategies for this condition.
Methods:
A Medline-based literature search was performed using the keywords 'HNPCC' and 'microsatellite instability'. Additional original papers were obtained from citations in articles identified by the initial search.
Results And Conclusion:
The Amsterdam criteria identify patients in whom the presence of an inherited mutation should be investigated. Those with a mutation should be offered counselling and screening. The role of prophylactic surgery has been superseded by regular colonoscopy, which dramatically reduces the risk of colorectal cancer. Screening for extracolonic malignancy is also advocated, but the benefits are uncertain. Chemoprevention may be of value in lowering the incidence of bowel cancer in affected patients, but further studies are required.
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