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Review
. 2016 Apr;61(4):969-76.
doi: 10.1007/s10620-015-3964-6. Epub 2015 Nov 24.

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

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Review

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

Stephen M Vindigni et al. Dig Dis Sci. 2016 Apr.

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.

Keywords: Colorectal cancer screening; Genetic testing; HNPCC; Hereditary non-polyposis colorectal cancer; Lynch syndrome; Universal screening; Universal testing.

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References

    1. Am J Manag Care. 2011 Aug 01;17(8):e288-300 - PubMed
    1. J Clin Oncol. 2015 Jun 20;33(18):2084-91 - PubMed
    1. Gastroenterology. 2015 Sep;149(3):777-82; quiz e16-7 - PubMed
    1. Colorectal Dis. 2009 Feb;11(2):126-30 - PubMed
    1. JAMA. 2006 Sep 27;296(12 ):1469-78 - PubMed

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