Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis.
Journal Article (Multicenter Study;Journal Article)
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.
- Stanich, PP; Elgindi, D; Stoffel, E; Koeppe, E; Bansal, A; Stetson, R; Collins, DL; Clark, DF; Karloski, E; Dudley, B; Brand, RE; Hall, MJ; Chertock, Y; Sullivan, BA; Muller, C; Hinton, A; Katona, BW; Kupfer, SS
- November 1, 2022
Volume / Issue
- 117 / 11
Start / End Page
- 1877 - 1879
Electronic International Standard Serial Number (EISSN)
Digital Object Identifier (DOI)
- United States