C0173 - Colonoscopy Findings in Patients With a Germline Pathogenic Variant in CDH1

Arjun Chatterjee, MD¹, Lady Katherine MejiaPerez, MD¹, Margaret M. O'Malley, ¹, Lisa LaGuardia, ¹, David Liska, MD², Carole Macaron, MD¹, Joshua Sommovilla, MD¹, Carol A. Burke, MD, FACG^2
1Cleveland Clinic Foundation, Cleveland, OH; ²Cleveland Clinic, Cleveland, OH

Introduction: Germline pathogenic variants (PV) in CDH1 predispose to hereditary diffuse gastric cancer and lobular breast cancer. There is no data on the risk of colorectal neoplasia in carriers of CDH1 pathogenic variants. Our aim is to investigate the colonoscopy findings in patients with a pathogenic variant in CDH1 undergoing colorectal cancer screening with colonoscopy.

Methods: This IRB-approved study identified patients with germline PV in CDH1 throughout the Cologene™ database in the David G. Jagelman Inherited Colorectal Cancer Registries. The electronic medical record was used to obtain information, including demographic characteristics, personal and family history of cancer, and colonoscopy findings, including adenomas, advanced adenomas (≥3 adenomas, or an adenoma ≥ 10 mm, or with villous features or high-grade dysplasia), and invasive colorectal cancer (CRC).

Results: This IRB-approved study identified patients with germline PV in CDH1 throughout the Cologene™ database in the David G. Jagelman Inherited Colorectal Cancer Registries. The electronic medical record was used to obtain information, including demographic characteristics, personal and family history of cancer, and colonoscopy findings, including adenomas, advanced adenomas (≥3 adenomas, or an adenoma ≥ 10 mm, or with villous features or high-grade dysplasia), and invasive colorectal cancer (CRC).

Discussion: In our small cohort of mostly female carriers of pathogenic variants in CDH1 undergoing screening colonoscopy, we found an early onset colon cancer and a high incidence of early-onset adenomas and advanced adenomas. We suggest colonoscopy be considered for patients with CDH1 PV at the age of 40 years or 10 years younger than the earliest age of CRC in an FDR if under the age of 60 at diagnosis.



Disclosures:


Arjun Chatterjee, MD¹, Lady Katherine MejiaPerez, MD¹, Margaret M. O'Malley, ¹, Lisa LaGuardia, ¹, David Liska, MD², Carole Macaron, MD¹, Joshua Sommovilla, MD¹, Carol A. Burke, MD, FACG². C0173 - Colonoscopy Findings in Patients With a Germline Pathogenic Variant in CDH1, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.