Brief Communication

Ann Lab Med 2014; 34(5): 386-389

Published online September 1, 2014

Copyright © Korean Society for Laboratory Medicine.

Presymptomatic Identification of CDH1 Germline Mutation in a Healthy Korean Individual with Family History of Gastric Cancer

Hyun-Jung Choi, M.D.1, Chang-Seok Ki, M.D.2, Soon-Pal Suh, M.D.1, and Jong-Won Kim, M.D.2

Department of Laboratory Medicine1, Chonnam National University Medical School and Chonnam National University Hospital, Gwanju; Department of Laboratory Medicine and Genetics2, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Correspondence to: Jong-Won Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 135-710, Korea
Tel: +82-2-3410-2705
Fax: +82-2-3410-2719

Received: February 11, 2014; Revised: March 5, 2014; Accepted: July 23, 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


Gastric cancer (GC) is one of the most common cancers with high morbidity and mortality. Familial GC is seen in 10% of cases, and approximately 3% of familial GC cases arise owing to hereditary diffuse gastric cancer (HDGC). CDH1, which encodes the protein E-cadherin, is the only gene whose mutations are associated with HDGC. Screening for the familial GC-predisposing gene has been neglected in high-risk countries such as Korea, China, and Japan, where all the cases have been attributed to Helicobacter pylori or other carcinogens. Screening for the GC-causing CDH1 mutation may provide valuable information for genetic counseling, testing, and risk-reduction management for the as-yet unaffected family members. An asymptomatic 44-yr-old Korean male visited our genetic clinic for consultation owing to his family history of GC. Eventually, c.1018A>G in CDH1, a known disease-causing mutation, was found. As of the publication time, the individual is alive without the evidence of GC, and is on surveillance. To our knowledge, this is the first Korean case of presymptomatic detection of CDH1 mutation, and it highlights the importance of genetic screening for individuals with a family history of GC, especially in high-risk geographical areas.

Keywords: omach, Neoplasms, Hereditary, CDH1, Asymptomatic