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J Med Genet 1999;36:873-880 ( December )

Review article

Familial gastric cancer: overview and guidelines for management* Carlos Caldasa, Fatima Carneirob, Henry T Lynchc, Jun Yokotad, Georgia L Wiesnere, Steven M Powellf, Frank R Lewisg, David G Huntsmanh, Paul D P Pharoaha, Janusz A Jankowskii, Patrick MacLeodj, Holger Vogelsangk, Gisela Kellerk, Ken G M Parkl, Frances M Richardsi, Eamonn R Maheri, Simon A Gaythera, Carla Oliveiraa b, Nicola Grehana, Derek Wightm, Raquel Serucab, Franco Roviellon, Bruce A J Pondera, Charles E Jacksong

a Department of Oncology, Cambridge Institute for Medical Research and Strangeways Research Laboratories, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2XY, UK, b IPATIMUP and Faculty of Medicine, University of Porto, 4200 Porto, Portugal, c Department of Preventive Medicine and Public Health, Creighton University, Omaha, NE 68178, USA, d National Cancer Center Research Institute, Chuo-ku, Tokyo 104-0045, Japan, e Department of Genetics and the Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106-6055, USA, f Division of Gastroenterology, University of Virginia, Charlottesville, VA 22906-0013, USA, g Departments of Surgery and Medical Genetics, Henry Ford Hospital, Detroit, MI 48202, USA, h  Department of Pathology and Laboratory Medicine, The University of British Columbia, Vancouver V6H 3V4, Canada, i Departments of Medicine and Medical Genetics, University of Birmingham, Birmingham B15 2TG, UK, j Section of Genetics, Victoria General Hospital, Victoria, BC V8Z 6R5, Canada, k Departments of Pathology and Surgery, Technical University of Munich, D-81675 Munich, Germany, l Department of Surgery, Aberdeen Royal Infirmary, Aberdeen AB9 2ZB, UK, m Department of Pathology, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, n Istituto Policattedra di Scienze Chirurgiche, Universita degli Studi di Siena, 53100 Siena, Italy

Correspondence to: Dr Caldas

Families with autosomal dominant inherited predisposition to gastric cancer have been described. More recently, germline E-cadherin/CDH1 mutations 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 germline E-cadherin/CDH1 mutations 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.


Keywords: gastric cancer; familial; hereditary; E-cadherin


© 1999 by J Med Genet



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