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Familial gastric cancer: overview and guidelines for management*
  1. Carlos Caldasa,
  2. Fatima Carneirob,
  3. Henry T Lynchc,
  4. Jun Yokotad,
  5. Georgia L Wiesnere,
  6. Steven M Powellf,
  7. Frank R Lewisg,
  8. David G Huntsmanh,
  9. Paul D P Pharoaha,
  10. Janusz A Jankowskii,
  11. Patrick MacLeodj,
  12. Holger Vogelsangk,
  13. Gisela Kellerk,
  14. Ken G M Parkl,
  15. Frances M Richardsi,
  16. Eamonn R Maheri,
  17. Simon A Gaythera,
  18. Carla Oliveiraa,b,
  19. Nicola Grehana,
  20. Derek Wightm,
  21. Raquel Serucab,
  22. Franco Roviellon,
  23. Bruce A J Pondera,
  24. Charles E Jacksong
  1. aDepartment of Oncology, Cambridge Institute for Medical Research and Strangeways Research Laboratories, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2XY, UK, bIPATIMUP and Faculty of Medicine, University of Porto, 4200 Porto, Portugal, cDepartment of Preventive Medicine and Public Health, Creighton University, Omaha, NE 68178, USA, dNational Cancer Center Research Institute, Chuo-ku, Tokyo 104-0045, Japan, eDepartment of Genetics and the Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106-6055, USA, fDivision of Gastroenterology, University of Virginia, Charlottesville, VA 22906-0013, USA, gDepartments of Surgery and Medical Genetics, Henry Ford Hospital, Detroit, MI 48202, USA, hDepartment of Pathology and Laboratory Medicine, The University of British Columbia, Vancouver V6H 3V4, Canada, iDepartments of Medicine and Medical Genetics, University of Birmingham, Birmingham B15 2TG, UK, jSection of Genetics, Victoria General Hospital, Victoria, BC V8Z 6R5, Canada, kDepartments of Pathology and Surgery, Technical University of Munich, D-81675 Munich, Germany, lDepartment of Surgery, Aberdeen Royal Infirmary, Aberdeen AB9 2ZB, UK, mDepartment of Pathology, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, nIstituto Policattedra di Scienze Chirurgiche, Universita degli Studi di Siena, 53100 Siena, Italy
  1. Dr Caldas


Families with autosomal dominant inherited predisposition to gastric cancer have been described. More recently, germlineE-cadherin/CDH1mutations have been identified in hereditary diffuse gastric cancer kindred. The need to have protocols to manage and counsel these families in the clinic led a group of geneticists, gastroenterologists, surgeons, oncologists, pathologists, and molecular biologists to convene a workshop to produce consensus statements and guidelines for familial gastric cancer. Review of the available cancer pathology from people belonging to families with documented germlineE-cadherin/CDH1mutations confirmed that the gastric cancers were all of the diffuse type. Criteria to define the different types of familial gastric cancer syndromes were agreed. Foremost among these criteria was that review of histopathology should be part of the evaluation of any family with aggregation of gastric cancer cases. Guidelines for genetic testing and counselling in hereditary diffuse gastric cancer were produced. Finally, a proposed strategy for clinical management in families with high penetrance autosomal dominant predisposition to gastric cancer was defined.

  • gastric cancer
  • familial
  • hereditary
  • E-cadherin

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  • * The overview and guidelines are the result of consensus statements agreed during the First Workshop of the International Gastric Cancer Linkage Consortium (IGCLC) held on 4-5 June 1999 at Churchill College, University of Cambridge, Cambridge, UK.