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Hereditary nonpolyposis colorectal cancer: preventive management.

Publication ,  Journal Article
Annie Yu, H-J; Lin, KM; Ota, DM; Lynch, HT
Published in: Cancer Treat Rev
December 2003

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.

Duke Scholars

Published In

Cancer Treat Rev

DOI

ISSN

0305-7372

Publication Date

December 2003

Volume

29

Issue

6

Start / End Page

461 / 470

Location

Netherlands

Related Subject Headings

  • Oncology & Carcinogenesis
  • Humans
  • Germ-Line Mutation
  • Genetic Testing
  • Genetic Counseling
  • DNA Replication
  • DNA Repair
  • Colorectal Neoplasms, Hereditary Nonpolyposis
  • Colectomy
  • Base Pair Mismatch
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Annie Yu, H.-J., Lin, K. M., Ota, D. M., & Lynch, H. T. (2003). Hereditary nonpolyposis colorectal cancer: preventive management. Cancer Treat Rev, 29(6), 461–470. https://doi.org/10.1016/s0305-7372(03)00084-7
Annie Yu, Hwei-Ju, Kevin M. Lin, David M. Ota, and Henry T. Lynch. “Hereditary nonpolyposis colorectal cancer: preventive management.Cancer Treat Rev 29, no. 6 (December 2003): 461–70. https://doi.org/10.1016/s0305-7372(03)00084-7.
Annie Yu H-J, Lin KM, Ota DM, Lynch HT. Hereditary nonpolyposis colorectal cancer: preventive management. Cancer Treat Rev. 2003 Dec;29(6):461–70.
Annie Yu, Hwei-Ju, et al. “Hereditary nonpolyposis colorectal cancer: preventive management.Cancer Treat Rev, vol. 29, no. 6, Dec. 2003, pp. 461–70. Pubmed, doi:10.1016/s0305-7372(03)00084-7.
Annie Yu H-J, Lin KM, Ota DM, Lynch HT. Hereditary nonpolyposis colorectal cancer: preventive management. Cancer Treat Rev. 2003 Dec;29(6):461–470.
Journal cover image

Published In

Cancer Treat Rev

DOI

ISSN

0305-7372

Publication Date

December 2003

Volume

29

Issue

6

Start / End Page

461 / 470

Location

Netherlands

Related Subject Headings

  • Oncology & Carcinogenesis
  • Humans
  • Germ-Line Mutation
  • Genetic Testing
  • Genetic Counseling
  • DNA Replication
  • DNA Repair
  • Colorectal Neoplasms, Hereditary Nonpolyposis
  • Colectomy
  • Base Pair Mismatch