Meta-analysis: What is the Prevalence of Lynch Syndrome in Patients with Colorectal Cancer?
BACKGROUND AND PURPOSE:
Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome (CRC), but population prevalence is not well established
Abu-Ghazaleh et al. (Genetics in Medicine, 2022) sought to determine the prevalence of LS in patients with CRC
Systematic review and meta-analysis
All studies with a sample size of ≥100 that reported prevalence of LS
No limitations were placed on any patient demographics
LS definition: Positive genetic germline testing for deleterious variant in an MMR (MLH1, MSH2, MSH6, and PMS2) or EPCAM gene
Prevalence was calculated by random effects meta-analysis models
Heterogeneity was assessed across studies
Meta-regression was performed for between-study variance
Prevalence of LS in patients with CRC
51 studies | 49,557 participants with CRC
Pooled yield of LS based on all methods of detection
2.2% (95% CI, 1.8% to 2.5%)
Studies that performed germline tests on all participants with CRC reported a reported higher prevalence of LS compared to those that only performed germline tests on a subset of participants
All patients with CRC: 5.1% prevalence
Patients with tumors with mismatch repair deficiency: 1.6% prevalence
Patients with microsatellite instability: 1.1%
Prevalence data was generally similar across multiple ethnic, geographic, and subject settings
Overall LS prevalence in patients with CRC is around 2%
However, universal germline testing of patients with CRC resulted in a higher prevalence of approximately 5% and likely closer to the actual prevalence
The authors state
Our results demonstrate that universal germline testing as a diagnostic tool yields the best estimates of clinically meaningful germline pathogenic variants
This review of the current landscape of screening and diagnostic strategies for LS identification may be useful to inform discussion, more empirically, on colonoscopy provision and develop optimal strategies for effective detection and preventative actions
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