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Colonoscopy findings in CDH1 carriers from a multicenter international study.
Arjun Chatterjee1, Robert Hüneburg2,3,4, Qijun Yang5
1Department of Internal Medicine, Cleveland Clinic, Cleveland, OH, USA.
Familial Cancer
|May 5, 2025
Summary
Germline CDH1 variants increase risk for hereditary cancers. This study found a higher adenoma detection rate in U.S. CDH1 variant carriers, especially before age 50, suggesting increased colorectal cancer risk.
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- Germline pathogenic variants (PV) in CDH1 are linked to hereditary diffuse gastric cancer and lobular breast cancer.
- Previous research suggests CDH1 variant carriers may have an increased risk for colorectal adenomas and sessile serrated lesions (SSL).
- Data specifically linking CDH1 PVs to colorectal neoplasia remain limited.
Purpose of the Study:
- To investigate colonoscopy findings in individuals carrying CDH1 PVs.
- To assess the adenoma detection rate (ADR) and SSL detection rate in this cohort.
- To compare findings with general population data and evaluate age-related risks.
Main Methods:
- Retrospective analysis of 103 CDH1 PV carriers who underwent colonoscopy between 2004 and 2023.
- Data sourced from the David G. Jagelman Inherited Colorectal Cancer Registries (Cleveland Clinic) and the German Consortium for Familial Intestinal Cancer.
- Comparison of ADR with U.S. and German national averages, and analysis of ADR based on age groups.
Main Results:
- The overall ADR was 29.4% in the German cohort and 48.6% in the Cleveland cohort.
- ADR significantly correlated with age, with rates of 13.6% (<45 years), 52.4% (45-49 years), and 52.6% (≥50 years).
- The SSL detection rate was 9.7%, and colorectal cancer was diagnosed in 3.2% of patients, with 2/3 diagnosed before age 50.
Conclusions:
- This international study suggests a potentially higher ADR in U.S. CDH1 PV carriers compared to the general population.
- A notable number of adenomas were detected in individuals under 50, indicating a possible increased risk for early-onset colorectal cancer.
- Larger studies are warranted to further explore the association between CDH1 PVs and colorectal cancer risk.
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