Prophylactic total gastrectomy in CDH1 germline mutation carriers

Germline mutation of the CDH1 gene, which encodes for the E-cadherin adhesion protein, is rare but confers an estimated lifetime risk of hereditary diffuse gastric cancer higher than 80 %. Prophylactic total gastrectomy seems to eliminate the high risk of developing diffuse gastric cancer in patients with this mutation. Current guidelines propose an accurate pre-operative work-up to engage patients at risk who can be good candidates for prophylactic surgery. In this chapter we analyze the general indications to prophylactic total gastrectomy and the diagnostic and therapeutic work-up, with particular reference to the techniques most used and recommended. We also investigate the metabolic consequences of a total gastrectomy and its impact on the patient's quality of life, together with the possible complications can be caused by this kind of operation.