PMC5120775_01
Patient pedigree, CDH1 mutation and H&E image of diffuse gastric cancer.. (A) The patient (indicated with the arrow head) is a 50 year old man who was diagnosed with gastric cancer at the age of 50. In his generation, three members were diagnosed with gastric cancers (one brother died of gastric cancer at 45, another brother was diagnosed with gastric cancer at 63). All three brothers affected with gastric cancer were determined to have the CDH1 c.1679 C>G p.T560R variant. (B) our patient's germline CDH1 sequencing demonstrating the CDH1 c.1679C>G variant. (C) Haematoxylin and eosin stain (H&E stain) of patient's biopsy specimen showing infiltrating adenocarcinoma poorly differentiated with mucinous and signet ring cell features. The signet ring cells are characteristic of hereditary diffuse gastric cancer (HDGC). They contain large amount of mucin which pushes the nucleus to the cell periphery (see arrows).
pone.0165654.g001.jpg
PMC5120775_01_pone.0165654.g001.jpg
pone.0165654.g001
Indian descent who was diagnosed with gastric cancer at age of 50. In his generation, three members including the proband were diagnosed with gastric cancer (one brother died of gastric cancer at 45, another brother was diagnosed with gastric cancer at 63) (Fig 1A).