Hereditary diffuse gastric cancer: updated clinical practice guidelines |
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| Affiliation: | 1. Department of Surgery, University of Auckland, Auckland, New Zealand;2. St Marks Breast Centre, Auckland, New Zealand;3. Kimihauora Health and Research Clinic, Mt Maunganui, New Zealand;4. Instituto de Investigação e Inovação em Saúde & Institute of Molecular Pathology and Immunology of the University of Porto, Department of Pathology, University of Porto, Porto, Portugal;5. Memorial Sloan Kettering Cancer Center and Weill Cornell Medical School, New York, NY, USA;6. HereditaryDiffuseGastricCancer.org, Madison, WI, USA;7. Department of Gastrointestinal Oncology, The Netherlands Cancer Institute, Amsterdam, Netherlands;8. Brisbane, QLD, Australia;9. Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands;10. Department of Pathology, Radboud University Medical Centre, Nijmegen, Netherlands;11. Department of Gastroenterology, Radboud University Medical Centre, Nijmegen, Netherlands;12. New Zealand Familial Gastrointestinal Cancer Service, Auckland Hospital, Auckland, New Zealand;13. Department of Histopathology, Auckland Hospital, Auckland, New Zealand;14. Genetic Health Service New Zealand Northern Hub, Auckland Hospital, Auckland, New Zealand;15. Consultation d''Oncogénétique, Unité Fonctionnelle d''Oncogénétique, Département de Génétique, DMU BioGeM, Groupe Hospitalier Pitié-Salpêtrière, Sorbonne Université, Paris, France;p. Department of Medicine, Royal Melbourne Hospital and Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia;q. Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA;r. Medical Research Council Cancer Unit, University of Cambridge, Cambridge, UK;s. Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK;t. Division of Oncology, Departments of Medicine and Genetics, Stanford University School of Medicine, Stanford, CA, USA;u. Cambridge University Hospitals National Health Service Foundation Trust, Cambridge, UK;v. Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada;w. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada;x. Hereditary Cancer Program, British Columbia Cancer, Vancouver, BC, Canada;y. Section of Gastroenterology, Nutrition and Hepatology, University of Chicago, Chicago, IL, USA;z. St Mark''s Hospital, London, UK;11. Department of Cancer and Surgery, Imperial College, London, UK;12. University of Texas MD Anderson Cancer Center, Houston, TX, USA;13. Department of Clinical Genetic Oncology, Cancer Institute Hospital, Tokyo, Japan;14. Department of Surgery, Tauranga Hospital, Tauranga, New Zealand;15. Department of Gastroenterology, Tauranga Hospital, Tauranga, New Zealand;16. Department of Tumor Pathology, Hamamatsu University School of Medicine, Hamamatsu, Japan;17. Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Department of Pathology, Hôpital Saint-Antoine, Paris, France;18. Division of Epigenomics, National Cancer Centre Research Institute, Tokyo, Japan;19. Seoul National University Hospital, Seoul, South Korea;110. Te Tumu School of Māori, Pacific and Indigenous Studies, University of Otago, Dunedin, New Zealand;111. Cancer Genetics Laboratory, Te Aho Matatū, Department of Biochemistry, University of Otago, Dunedin, New Zealand;112. Healthier Lives National Science Challenge, University of Otago, Dunedin, New Zealand;113. No Stomach for Cancer, Madison, WI, USA;114. DeGregorio Family Foundation, New York, NY, USA;115. Department of Biochemistry and Molecular Medicine, University of California Davis School Of Medicine, Davis, CA, USA;1p. Laboratory of the Swiss Hepato-Pancreato-Biliary and Transplantation Centre, Department of Surgery, University Hospital Zürich, Zurich, Switzerland;1q. Genetic Health Service New Zealand South Island Hub, Christchurch Hospital, Christchurch, New Zealand;1r. Mt Maunganui, New Zealand;1s. Esophagogastric Surgery Unit, Digestive Surgery Department, Hospital Dr Sotero del Rio, Pontificia Universidad Catolica de Chile, Santiago, Chile;1t. Institute for Systems and Robotics, Instituto Superior Técnico, Lisbon, Portugal;1u. Department of Pathology and Laboratory Medicine, UCLA David Geffen School of Medicine, Los Angeles, CA, USA |
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| Abstract: | Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is largely caused by inactivating germline mutations in the tumour suppressor gene CDH1, although pathogenic variants in CTNNA1 occur in a minority of families with HDGC. In this Policy Review, we present updated clinical practice guidelines for HDGC from the International Gastric Cancer Linkage Consortium (IGCLC), which recognise the emerging evidence of variability in gastric cancer risk between families with HDGC, the growing capability of endoscopic and histological surveillance in HDGC, and increased experience of managing long-term sequelae of total gastrectomy in young patients. To redress the balance between the accessibility, cost, and acceptance of genetic testing and the increased identification of pathogenic variant carriers, the HDGC genetic testing criteria have been relaxed, mainly through less restrictive age limits. Prophylactic total gastrectomy remains the recommended option for gastric cancer risk management in pathogenic CDH1 variant carriers. However, there is increasing confidence from the IGCLC that endoscopic surveillance in expert centres can be safely offered to patients who wish to postpone surgery, or to those whose risk of developing gastric cancer is not well defined. |
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