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Familial Cancer
Published in: Familial Cancer 2/2021

01-04-2021 | Colorectal Cancer | Original Article

Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas

Authors: George Kunnackal John, Vipin Das Villgran, Christine Caufield-Noll, Francis Giardiello

Published in: Familial Cancer | Issue 2/2021

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Abstract

To perform a systematic assessment of universal Lynch syndrome (LS) screening yield in colorectal cancer (CRC) patients around the world. Universal screening for LS is recommended in all CRC patients. However, the variation in yield of LS screening in the setting of significant global variation in CRC prevalence is unknown. A systematic review of articles in the MEDLINE database was performed to identify studies performing universal screening for LS. All cases with microsatellite instability (MSI-H) or missing one or more proteins on immunohistochemistry (IHC) were considered screening positive. The overall pooled yield of universal LS screening in 97 study arms from 89 identified studies was 11.9% (5649/47545) and the overall pooled percentage of confirmed LS patients was 1.8% (682/37220). LS screening positivity varied significantly based on geographic region (Kruskal Wallis test, p < 0.001) and reported 5-year CRC prevalence in the country (Fisher’s exact, p < 0.001). Significant inverse correlation was found between LS screening positivity and 5-year CRC prevalence (Pearson correlation, r =  − 0.56, p < 0.001). The overall yield of LS screening was 15.00% (382/2553) and rate of confirmed LS was 7.7% (113/1475) in LS screening done in patients ≤ 50 years (16 studies). There is significant geographic variation in LS screening positivity with higher yield in countries with lower prevalence of CRC. Our results highlight the importance of universal LS screening in younger patients and low CRC prevalence countries.
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Metadata
Title
Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas
Authors
George Kunnackal John
Vipin Das Villgran
Christine Caufield-Noll
Francis Giardiello
Publication date
01-04-2021
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 2/2021
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-020-00206-0

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