The vast majority of gastric cancers are sporadic. However, 1-3% arise as a result of inherited gastric cancer predisposition syndromes, generally referred to as hereditary diffuse gastric cancer (HDGC). Of those families that fulfill the clinical criteria for HGDC only 25% have a CDH1 germline mutation. No reliable surveillance technique exists for individuals with HDGC. Difficult decisions have therefore to be made by mutation carriers to proceed with prophylactic total gastrectomy, or undergo lifelong annual surveillance. We present a case of the management of a patient with a documented CDH1 mutation and briefly review the available literature.
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