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Current Treatment Options in Gastroenterology
Erschienen in: Current Treatment Options in Gastroenterology 4/2019

01.11.2019 | Genetics in Gastroenterology Practice (B Katona, Section Editor)

Effective Identification of Lynch Syndrome in Gastroenterology Practice

verfasst von: Charles Muller, MD, Lindsay Matthews, MD, Sonia S. Kupfer, MD, Jennifer M. Weiss, MD, MS

Erschienen in: Current Treatment Options in Gastroenterology | Ausgabe 4/2019

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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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Metadaten
Titel
Effective Identification of Lynch Syndrome in Gastroenterology Practice
verfasst von
Charles Muller, MD
Lindsay Matthews, MD
Sonia S. Kupfer, MD
Jennifer M. Weiss, MD, MS
Publikationsdatum
01.11.2019
Verlag
Springer US
Erschienen in
Current Treatment Options in Gastroenterology / Ausgabe 4/2019
Print ISSN: 1092-8472
Elektronische ISSN: 1534-309X
DOI
https://doi.org/10.1007/s11938-019-00261-2

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