Hereditary nonpolyposis colorectal cancer other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Diagnostic and screening endoscopy is recommended in the case of HNPCC.[1] According to the American College of Gastroenterology, patients with HNPCC should undergo colonoscopy every 2 years beginning at age 20–25 years, until age 40 years, then annually thereafter.[2]

Other Diagnostic Studies

Diagnostic and screening colonoscopy is recommended in the case of HNPCC. In addition, annual upper endoscopy is highly suggested in families with gastric cancer.[3]

Colonoscopy

Patients with HNPCC should undergo colonoscopy every 2 years beginning at age 20–25 years, until age 40 years, then annually thereafter.[2]

ACG Guidelines - Colorectal Cancer Screening

Patients with positive tests can be offered genetic testing and when genetic testing is positive in a proband, at risk family members can be offered genetic testing. Those patients with positive genetic testing, or those at risk when genetic testing is unsuccessful in an affected proband, should undergo colonoscopy every 2 years beginning at age 20–25 years, until age 40 years, then annually thereafter (Grade 2 B). [2]

Genetic testing

The Amsterdam clinical criteria identifies candidates for genetic testing, and genetic testing can make a diagnosis of Lynch syndrome. Genetic testing is commercially available through Myriad Genetics, and consists of a blood test.[3]

Colonoscopy

References

  1. Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.
  2. 2.0 2.1 2.2 Rex DK, Johnson DA, Lieberman DA et al. Colorectal cancer prevention 2000: screening recommendations of the American College of Gastroenterology. Am J Gastroenterol 2000;95:868–77.
  3. 3.0 3.1 Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116(6):1453-6.


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