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Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities

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Abstract

Lynch syndrome (LS) is the most common heritable colorectal cancer (CRC) syndrome, accounting for approximately 3 % of CRC cases in the USA each year. LS results from a genetic mutation in one of the four mismatch repair genes, and clinically LS is associated with CRC and other gastrointestinal and extra-gastrointestinal malignancies. In this review, we describe the various clinical criteria utilized for the identification of LS patients and the inherent flaws with these criteria. We discuss the concept of universal testing for LS in all cases of newly diagnosed CRC, along with the potential benefits and challenges of universal testing. Several studies have shown that universal tumor testing is cost-effective and identifies cases of LS that are missed using traditional clinical criteria, which may result in reduced cancer mortality for probands and their families. Yet the full benefits of universal tumor testing may be limited by the availability and patient acceptance of genetic testing, and by logistical obstacles affecting the implementation of universal testing programs. Lastly, we comment on developing technologies such as massively parallel next-generation sequencing, which permits simultaneous sequencing of multiple genes involved in LS and other inherited colon cancer syndromes.

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Authors and Affiliations

  1. Division of Gastroenterology, University of Washington School of Medicine, 1959 NE Pacific Street, Box 356424, Seattle, WA, 98105, USA

    Stephen M. Vindigni & Andrew M. Kaz

  2. VA Puget Sound Health Care System, 1660 S. Columbian Way, S-111-Gastro, Seattle, WA, 98108, USA

    Andrew M. Kaz

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  1. Stephen M. Vindigni
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Correspondence to Andrew M. Kaz.

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The findings and conclusions in this report are those of the authors and do not necessarily reflect the views of the University of Washington or Veterans Affairs. This material is the result of work supported in part by resources from the Veterans Health Administration.

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Vindigni, S.M., Kaz, A.M. Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities. Dig Dis Sci 61, 969–976 (2016). https://doi.org/10.1007/s10620-015-3964-6

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  • DOI: https://doi.org/10.1007/s10620-015-3964-6

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