title: [Hereditary diffuse gastric cancer].
abstract: Hereditary diffuse gastric cancer is an autosomal dominant syndrome with a high lifetime risk of diffuse gastric cancer and also a high risk of lobular breast carcinoma. Hereditary diffuse gastric cancer (HDGC) is characterized by late presentation and a poor prognosis. The average age of onset of HDGC is 38 years, with a range of 14-69 years. The estimated lifetime risk of developing gastric cancer by age 80 is 67% for men and 83% for women. Many families with HDGC have germline mutations in the E-cadherin (CDH1) gene. We describe indication for genetic testing of germline mutations in CDH1 gene, possibilities of predictive testing, preventive care, prophylactic gastrectomy and preimplantation diagnosis.
authors.affiliation: Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha. alena.puchmajerova@lfmotol.cuni.cz
authors.forename: A
authors.initials: A
authors.lastname: Puchmajerová
authors.forename: P
authors.initials: P
authors.lastname: Vasovčák
authors.forename: E
authors.initials: E
authors.lastname: Macháčková
authors.forename: L
authors.initials: L
authors.lastname: Foretová
authors.forename: A
authors.initials: A
authors.lastname: Křepelová
mesh_terms: D000293:Adolescent; D000328:Adult; D015703:Antigens, CD; D001943:Breast Neoplasms / Q000235:genetics; D015820:Cadherins / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology / Q000517:prevention & control; D055815:Young Adult
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins