E-cadherin germline mutation carriers: clinical management and genetic implications

摘要: Hereditary diffuse gastric cancer is an autosomic dominant syndrome associated with E-cadherin protein (CDH1) gene germline mutations. Clinical criteria for genetic screening were revised in 2010 by the International Gastric Cancer Linkage Consortium at Cambridge meeting. About 40 % of families fulfilling clinical this inherited disease present deleterious CDH1 Lobular breast a neoplastic condition hereditary syndrome. constitutional mutations have been described both settings, and cancers. The management asymptomatic mutation carriers requires multidisciplinary approach; only life-saving procedure prophylactic total gastrectomy after thorough counselling. Several gastrectomies performed to date; conversely, no mastectomies mutant carriers. However, recent discovery novel alterations pedigree clustering lobular opens up new debate these individuals. In critical review, we describe providing specific recommendations counselling, criteria, surveillance and/ or surgery.