Hereditary diffuse gastric cancer: Lifesaving potential of prophylactic gastrectomy

We describe a family with a mutation in the E-cadherin gene CDH1 which led to a diagnosis of early diffuse gastric cancer in two asymptomatic siblings. Although a third sibling had succumbed to metastatic gastric cancer, the identification of the mutation before her death prompted genetic counseling and testing. Despite negative findings on endoscopic screening in her brother and sister, we recommended prophylactic surgery, which was ultimately lifesaving. This family draws attention to a rare cancer predisposition syndrome and demonstrates the importance of presymptomatic genetic testing in making decisions regarding surveillance and the option of prophylactic surgery. Furthermore, this family highlights an increasingly common scenario in predisposition counseling, wherein it is appropriate to take a more directive, shared decision-making approach in recommending a lifesaving intervention.