Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis. (6th November 2022)

• Record Type: Journal Article
• Authors: Stanich, Peter P.; Elgindi, Dareen; Stoffel, Elena; Koeppe, Erika; Bansal, Ajay; Stetson, Rachel; Collins, Debra L.; Clark, Dana Farengo; Karloski, Eve; Dudley, Beth; Brand, Randall E.; Hall, Michael J.; Chertock, Yana; Sullivan, Brian A.; Muller, Charles; Hinton, Alice; Katona, Bryson W.; Kupfer, Sonia S.
• Is Part Of: American journal of gastroenterology. Volume 117:Number 11(2022)
• Page Start: 1877
• Page End: 1879
• Publication Date: 2022-11-06
• Subjects: Stomach -- Diseases -- Periodicals; Intestines -- Diseases -- Periodicals; Gastroenterology -- Periodicals; Gastrointestinal Diseases -- Periodicals; Electronic journals; Periodicals; 616.33
• DOI: 10.14309/ajg.0000000000001996
• Languages: English
• ISSNs: 0002-9270

Abstract

Abstract : 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.