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Familial Cancer

Erschienen in:

11.09.2020 | Original Article

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

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

Erschienen in: Familial Cancer | Ausgabe 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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Titel: Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas
verfasst von: George Kunnackal John
Vipin Das Villgran
Christine Caufield-Noll
Francis Giardiello
Publikationsdatum: 11.09.2020
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 2/2021
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-020-00206-0

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

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