What is the role of genetic testing in the prevention of pediatric colorectal tumors?

Updated: Jun 06, 2020
  • Author: Jaime Shalkow, MD, FACS; Chief Editor: Cameron K Tebbi, MD  more...
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Answer

Answer

Genetic testing for cancer susceptibility has positive attributes. Family members who test negative for the particular APC or MMR gene are spared the repeated medical and endoscopic examinations that otherwise would have to be performed. They are also spared the anxiety associated with not knowing whether they are affected. Surveillance can then be concentrated on those who have inherited a mutant gene.

Although genetic testing studies for screening are lacking, expert opinion recommends that genetic testing should be performed in every patient with newly diagnosed CRC, to prevent morbidity and mortality in direct relatives. Implementation of universal screening for Lynch syndrome has been declared as part of the 2020 objectives of the Office of Public Health Genomics in the United States. [15]

Future prospective studies should include a systematic family history and testing for potentially relevant genetic conditions if indicated. Trials should also address the risk of CRC in family members and promote sensible family screening guidelines. [69]


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