A novel germline mutation in the <i>MET</i> extracellular domain in a Korean patient with the diffuse type of familial gastric cancer

Abstract

astric cancer is one of the most deadly cancers world wide. Although its incidence has declined in recent years, it is still the most prevalent cancer in Asian countries such as Korea and Japan. 1 Germline mutations of the cell to cell adhesion molecule E-cadherin (CDH1) have been reported in patients with the diffuse type of familial gastric cancer. 2 3 However, the frequency of CDH1 mutations is low overall 4 and the observed mutations differ between western and Asian patients. Truncating mutations (that is, nonsense, frameshift, and alternative splicing mutations) predominate in patients of western origin, 2 3 whereas only a few missense mutations have been found in patients of Asian extraction. 5 6 This suggested that CDH1 does not play a major role in gastric cancer development in Asian countries, and prompted researchers to investigate other gastric cancer causing genes.