Original Article

Familial Cancer

, Volume 11, Issue 3, pp 363-369

First online:

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

  • Irma KluijtAffiliated withFamily Cancer Clinic, The Netherlands Cancer Institute Email author 
  • , Rolf H. SijmonsAffiliated withDepartments of Genetics, University Medical Centre Groningen, University of Groningen
  • , Nicoline HoogerbruggeAffiliated withDepartments of Human Genetics, Medical Centre, Radboud University Nijmegen
  • , John T. PlukkerAffiliated withSurgical Oncology, University Medical Centre Groningen, University of Groningen
  • , Daphne de JongAffiliated withDepartments of Pathology, The Netherlands Cancer Institute
  • , J. Han van KriekenAffiliated withPathology, Medical Centre, Radboud University Nijmegen
  • , Richard van HillegersbergAffiliated withDepartment of Surgical Oncology, University Medical Centre Utrecht
  • , Marjolijn LigtenbergAffiliated withDepartments of Human Genetics, Medical Centre, Radboud University NijmegenPathology, Medical Centre, Radboud University Nijmegen
  • , Eveline BleikerAffiliated withPsychosocial Research and Epidemiology, The Netherlands Cancer Institute
    • , Anemieke CatsAffiliated withGastroenterology, The Netherlands Cancer Institute

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access


Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause. Carriers of a germline mutation in CDH1 have a lifetime risk of >80% of developing diffuse gastric cancer. As periodic gastric surveillance is of limited value in detecting early stages of HDGC, prophylactic gastrectomy is advised for this patient group. Little is known about other types of familial gastric cancer. The Dutch working group on hereditary gastric cancer has formulated guidelines for various aspects of medical management for families and individuals at high risk of developing gastric cancer, including criteria for referral, classification, diagnostics, and periodic gastric surveillance. These guidelines are not limited to HDGC and are therefore partially complementary to the guidelines on hereditary diffuse gastric cancer of the international gastric cancer linkage consortium (IGCLC 2010). In order to optimize the care and increase the knowledge on hereditary gastric cancer it is important to centralize medical care for these patients. National and international collaboration is warranted to improve the quality of research by increasing the size of study cohorts.


Familial gastric cancer Hereditary diffuse gastric cancer CDH1 Gastric surveillance Prophylactic gastrectomy Intestinal gastric cancer