Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis.
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.
Duke Scholars
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- Retrospective Studies
- Middle Aged
- Humans
- Germ-Line Mutation
- Gastroenterology & Hepatology
- Female
- Colorectal Neoplasms
- Colonoscopy
- Cadherins
- Breast Neoplasms
Citation
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Retrospective Studies
- Middle Aged
- Humans
- Germ-Line Mutation
- Gastroenterology & Hepatology
- Female
- Colorectal Neoplasms
- Colonoscopy
- Cadherins
- Breast Neoplasms