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Genetic testing for hereditary nonpolyposis colorectal cancer

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Genetic testing for hereditary nonpolyposis colorectal cancer

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22.09.2014 • Sonuncu dəyişiklik 22.09.2014
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Genetic testing of hereditary nonpolyposis colorectal cancer may reduce the number of surveillance colonoscopies and help target surveillance at high-risk patients.

A technology assessment report on genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) was abstracted in the Health Technology Assessment Database . Genetic testing of HNPCC can reduce the number of surveillance colonoscopies and help target surveillance at high-risk patients. Studies of the effect of genetic testing of HNPCC on more substantial outcomes such as mortality are limited. Genetic testing requires pre- and post-test genetic counselling and written informed consent for both affected and at-risk individuals. Testing is not indicated for patients with sporadic colorectal cancer nor their family members, and not for mass screening of the general population. If germ-line mutation analysis indicates a deleterious mutation, genetic testing of at-risk family members can provide true positive and negative results. If no deleterious mutation is found in the affected person, genetic testing of at-risk family members will only provide inconclusive results.

Ədəbiyyat

  1. Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC). Bloomington, MN: Institute for Clinical Systems Improvement (ICSI). 2002. Institute for Clinical Systems Improvement (ICSI). www.icsi.org.
  2. Health Technology Assessment Database: HTA-20030552. The Cochrane Library, Issue 1, 2004. Chichester, UK: John Wiley & Sons, Ltd.