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Updated: Aug 29, 2025
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Published on: February 5, 2018
Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis
Peter P Stanich1, Dareen Elgindi2, Elena Stoffel3
1Division of Gastroenterology, Hepatology & Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Introduction:
Germline variants in CDH1 are associated with elevated risks of diffuse gastric cancer and lobular breast cancer. It is uncertain whether there is an increased risk of colorectal neoplasia.
Methods:
This was a retrospective analysis of colonoscopy outcomes in patients with germline CDH1 pathogenic/likely pathogenic variants.
Results:
Eighty-five patients were included with a mean age of 46.9 years. Initial colonoscopy found adenomatous polyps in 30 patients (35.3%), including advanced adenomas in 9 (10.6%). No colorectal cancers were identified on index or subsequent colonoscopies (when available).
Discussion:
CDH1 carriers have colorectal neoplasia identified at similar rates as in the general population. Despite potential difficulties after gastrectomy, colorectal cancer screening remains important in this population.
