Hereditary nonpolyposis colorectal cancer

Preventive management

Hwei Ju Annie Yu, Kevin M. Lin, David M. Ota, Henry T. Lynch

Research output: Contribution to journalReview article

40 Citations (Scopus)

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancer. Inherited mutations in the mismatch repair genes associated with this syndrome have an approximate 80% lifetime risk of colorectal cancer. Since there are no premonitory signs of susceptibility to HNPCC, family history is the initial method for identifying those at increased risk. At risk individuals should undergo genetic counseling and testing. Although an algorithmic indication for genetic testing in at risk HNPCC patients is yet to be determined, many advocate initial screening for microsatellite instability (MSI) of the cancer specimen in individuals suspected of carrying HNPCC mutations. Those who test positive for MSI can then undergo further testing for mutations in the associated germline mismatch repair genes. Techniques for detecting these mutations currently include in vitro synthesized-protein assay, single-strand conformational polymorphism, and DNA sequencing. Given the aggressive nature of HNPCC adenomas, individuals who test positive for HNPCC mutations are recommended to undergo yearly colonoscopic surveillance starting at the age of 25. A reasonable alternative to lifetime colonoscopic surveillance for the prevention of colorectal cancer in these individuals is prophylactic colectomy. The prevention of colorectal cancer through pharmacological means is under investigation as another option in the management of HNPCC patients. Specifically, chemoprevention trials are currently ongoing to evaluate the efficacy of COX-2 inhibitors in the prevention of colorectal cancer in HNPCC and familial adenomatous polyposis patients.

Original languageEnglish
Pages (from-to)461-470
Number of pages10
JournalCancer Treatment Reviews
Volume29
Issue number6
DOIs
StatePublished - Dec 2003

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Hereditary Nonpolyposis Colorectal Neoplasms
Colorectal Neoplasms
Mutation
Microsatellite Instability
DNA Mismatch Repair
Genetic Testing
Adenomatous Polyposis Coli
Colectomy
Cyclooxygenase 2 Inhibitors
Genetic Counseling
Chemoprevention
DNA Sequence Analysis
Adenoma
Genes
Pharmacology

All Science Journal Classification (ASJC) codes

  • Oncology
  • Urology

Cite this

Hereditary nonpolyposis colorectal cancer : Preventive management. / Yu, Hwei Ju Annie; Lin, Kevin M.; Ota, David M.; Lynch, Henry T.

In: Cancer Treatment Reviews, Vol. 29, No. 6, 12.2003, p. 461-470.

Research output: Contribution to journalReview article

Yu, Hwei Ju Annie ; Lin, Kevin M. ; Ota, David M. ; Lynch, Henry T. / Hereditary nonpolyposis colorectal cancer : Preventive management. In: Cancer Treatment Reviews. 2003 ; Vol. 29, No. 6. pp. 461-470.
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