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Effective Identification of Lynch Syndrome in Gastroenterology Practice

  • Genetics in Gastroenterology Practice (B Katona, Section Editor)
  • Published:
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Abstract

Purpose of review

Identification of Lynch syndrome is important from an individual patient and public health standpoint. As paradigms for Lynch syndrome diagnosis have shifted in recent years, this review will discuss rationale and limitations for current strategies as well as provide an overview of future directions in the field.

Recent findings

In recent years, the use of clinical criteria and risk scores for identification of Lynch syndrome has been augmented by universal testing of all newly diagnosed colorectal cancers with molecular methods to screen for mismatch repair deficiency with high sensitivity and specificity. Studies of implementation and outcomes of universal testing in clinical practice have demonstrated significant heterogeneity that results in suboptimal uptake and contributes to disparities in diagnosis. Emerging technologies, such as next-generation sequencing, hold significant promise as a screening strategy for Lynch syndrome.

Summary

Universal testing for Lynch syndrome is being performed with increasing frequency, although real-world outcomes have demonstrated room for improvement. Future directions in Lynch syndrome diagnosis will involve optimization of universal testing workflow and application of new genetics technologies.

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Grant support

Support was provided in part by NIH R01 CA220329 (SSK) and grant MRSG-13-144-01-CPHPS from the American Cancer Society (JMW).

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  1. Section of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Chicago, Chicago, IL, USA

    Charles Muller MD & Sonia S. Kupfer MD

  2. Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

    Lindsay Matthews MD & Jennifer M. Weiss MD, MS

  3. Division of Gastroenterology and Hepatology, Department of Medicine, University of Wisconsin School of Medicine and Public Health, 1685 Highland Ave, Room 4200, Madison, WI, 53705, USA

    Jennifer M. Weiss MD, MS

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  1. Charles Muller MD
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Correspondence to Jennifer M. Weiss MD, MS.

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Charles Muller and Lindsay Matthews declare no conflict of interest. Sonia Kupfer reports non-financial support from Myriad Genetics for collaborative research, outside the submitted work. Jennifer Weiss reports grants from American Cancer Society, during the conduct of the study; personal fees from American College of Physicians as an Editor of MKSAP 18 Board Basics Gastroenterology and Hepatology Section, outside the submitted work.

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Muller, C., Matthews, L., Kupfer, S.S. et al. Effective Identification of Lynch Syndrome in Gastroenterology Practice. Curr Treat Options Gastro 17, 666–680 (2019). https://doi.org/10.1007/s11938-019-00261-2

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