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

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ORIGINAL ARTICLE

Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas George Kunnackal John1,5   · Vipin Das Villgran2 · Christine Caufield‑Noll3 · Francis Giardiello4 Received: 3 April 2020 / Accepted: 1 September 2020 © Springer Nature B.V. 2020

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