Hereditary Gastric Cancer: A New Syndrome

Hereditary diffuse gastric cancer is an autosomal dominant syndrome associated with E-cadherin protein gene (CDH1) germline mutations. Clinical criteria for genetic screening were revised in 2020 by the International Gastric Cancer Linkage Consortium. About 40% of families fulfilling clinical criteria for this inherited disease present deleterious CDH1 germline mutations. Lobular breast cancer is a neoplastic condition associated with the hereditary diffuse gastric cancer syndrome. E-cadherin constitutional mutations have been described in both settings, in gastric and breast cancers. The only life-saving procedure is prophylactic total gastrectomy for deleterious CDH1 germline mutant carriers. In this chapter we will describe the multidisciplinary clinical management of this complex inherited cancer predisposition.