Abstract
Purpose
Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome,
with an estimated prevalence of 2% to 3% of CRC. A prevalence study is needed to provide
accurate estimates of the true prevalence of LS.
Methods
MEDLINE (Ovid), Embase, and Web of Science were searched. Prevalence was calculated
by random effects meta-analysis models. I2 score was used to assess heterogeneity across studies. Meta-regression was performed
for between-study variance.
Results
A total of 51 studies were included in this review. The overall pooled yield of LS
screening was 2.2% based on all methods of detection. Studies performing germline
tests on all participants with CRC reported higher prevalence (5.1%) as opposed to
studies only performing germline tests on participants with tumors with mismatch repair
deficiency (1.6%) or microsatellite instability (1.1%). Selected cohorts of CRC had
a higher prevalence of germline LS diagnoses.
Conclusion
LS prevalence across multiple ethnic, geographic, and clinical populations is remarkably
similar. Universal germline testing of patients presenting with cancer identifies
that most CRCs are attributed to LS. Young patients presenting with CRC and those
who fulfill criteria for a familial risk provide the highest returns for LS identification.
Our study supports the universal germline CRC screening for LS.
Keywords
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Article info
Publication history
Published online: February 14, 2022
Accepted:
January 21,
2022
Received in revised form:
January 20,
2022
Received:
September 3,
2021
Identification
Copyright
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
