Hereditary Diffuse Gastric Cancer

Authors: A. Puchmajerová 1;  P. Vasovčák 1;  E. Macháčková 2;  L. Foretová 2;  A. Křepelová 1
Authors‘ workplace: Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha 1;  Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno 2
Published in: Klin Onkol 2012; 25(Supplementum): 30-33


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.

Key words:
diffuse gastric cancer – lobular breast cancer – CDH1 gene – prophylactic total gastrectomy

This study was supported by the project (Ministry of health, Czech Republic) for conceptual development of research organisation 00064203 (University hospital Motol, Prague, Czech Republic), by the European Regional Development Fund and by the Czech Republic´s national budget (OP VaVpI – RECaMO, CZ.1.05/2.1.00/03.0101).

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

26. 4. 2012

25. 6. 2012


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