Frequency of CDH1 germline mutations in diffuse gastric cancer in Brazil.

e12535 Background: Although hereditary diffuse gastric cancer syndrome is a rare condition its contribution to gastric cancer burden in Brazil is unknown. The aim of this study was to examine the frequency of CDH1 germline mutations in a population-based series of diffuse gastric cancer (DGC) in Brazil, which is considered a middle/high-incidence country for gastric cancer. Methods: From October 2013 to October 2014 a total of 64 unrelated and consecutive patients attending a Brazilian public hospital with DGC were enrolled and all CDH1 exons and intronic boundaries were sequenced. Clinico-pathological features were extracted from electronic medical records. Recruitment for this study is still ongoing. Results: Of 64 patients, 57.8% were female and the mean age at gastric cancer diagnosis was 46.6 years (range 21-76); 17% reported family history of gastric cancer in first- or second-degree relatives, 39% were diagnosed ≤ 40 years old, and none of them fulfilled the original 1999 International Gastric Canc...