Cascade Genetic Testing for Lynch Syndrome: Current Understanding, Challenges, and Emerging Opportunities

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Deborah J Bowen EJ Dusic Sukh Makhnoon


Cascade genetic testing, a highly effective method of identifying high penetrance cancer risk mutations in the family, is a promising method of prevention. Cascade testing is defined as directed genetic testing of at-risk relatives of individuals known to have actionable mutations However, it is tremendously underutilized in clinical practice, and the reasons are complex and diverse. We discuss these reasons and consider areas of research for key findings, strengths and weaknesses. We offer testable solutions for increasing interest and use of cascade testing opportunities in families and in clinical practice using colorectal cancer as an example. This area of clinical research has great potential to save lives by improving cancer prevention and early detection in families at high genetic risk, and should be actively pursued with resources and ideas. 

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BOWEN, Deborah J; DUSIC, EJ; MAKHNOON, Sukh. Cascade Genetic Testing for Lynch Syndrome: Current Understanding, Challenges, and Emerging Opportunities. Medical Research Archives, [S.l.], v. 10, n. 2, feb. 2022. ISSN 2375-1924. Available at: <>. Date accessed: 06 dec. 2022. doi:
Research Articles


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