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Genes 2014, 5(3), 497-507; doi:10.3390/genes5030497

Lynch Syndrome: An Updated Review

Centre for Colorectal Disease, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland
* Author to whom correspondence should be addressed.
Received: 3 December 2013 / Revised: 30 April 2014 / Accepted: 9 May 2014 / Published: 27 June 2014
(This article belongs to the Special Issue Microsatellite Instability)
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Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%–70% lifetime risk of colorectal cancer, 40%–60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2. In a subset of patients, Lynch syndrome is caused by 3' end deletions of the EPCAM gene, which can lead to epigenetic silencing of the closely linked MSH2. Relying solely on age and family history based criteria inaccurately identifies eligibility for Lynch syndrome screening or testing in 25%–70% of cases. There has been a steady increase in Lynch syndrome tumor screening programs since 2000 and institutions are rapidly adopting a universal screening approach to identify the patients that would benefit from genetic counseling and germline testing. These include microsatellite instability testing and/or immunohistochemical testing to identify tumor mismatch repair deficiencies. However, universal screening is not standard across institutions. Furthermore, variation exists regarding the optimum method for tracking and disclosing results. In this review, we summarize traditional screening criteria for Lynch syndrome, and discuss universal screening methods. International guidelines are necessary to standardize Lynch syndrome high-risk clinics.
Keywords: Lynch syndrome; genetics; screening; history; CRC clinic Lynch syndrome; genetics; screening; history; CRC clinic
This is an open access article distributed under the Creative Commons Attribution License (CC BY) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Sehgal, R.; Sheahan, K.; O'Connell, P.R.; Hanly, A.M.; Martin, S.T.; Winter, D.C. Lynch Syndrome: An Updated Review. Genes 2014, 5, 497-507.

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