Hereditary gastric cancer syndromes are a rare but distinct cause of gastric cancers. The genetic mutations underlying most affected families are unknown. Mutations of CDH1 occur in some patients affected by hereditary diffuse gastric cancer, and is the only practical marker for guiding management. Carriers of CDH1 mutations are at risk for a highly penetrant, aggressive and early-onset diffuse-type gastric cancer, and these individuals are usually offered prophylactic total gastrectomy. Further research is required to identify other genetic mutations responsible for these syndromes to improve our understanding of the underlying disease mechanisms and optimize the clinical management of affected individuals.
Keywords: Diagnosis; Familial intestinal gastric cancer; Gastrectomy; Gastric adenocarcinoma and proximal polyposis of the stomach; Genetic counseling; Hereditary diffuse gastric cancer; Hereditary gastric cancer syndromes; Management.
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