1. Hereditary diffuse gastric cancer: updated clinical practice guidelines
- Author
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Pardeep Kaurah, Magali Svrcek, Toshikazu Ushijima, James Whitworth, Yasmin Nouri, Kirsty L. Harris, Emily Schulpen, Jeremy L. Davis, Lynn DeGregorio, Hidetaka Yamada, Richard H. Hardwick, Tanis D Godwin, Julie Arnold, Carla Oliveira, Jolanda M. van Dieren, Helen L. Fisher, Bostjan Humar, Katharine Nichole Holm, Han Kwang Yang, Parry Guilford, Joana Figueiredo, Fátima Carneiro, Sonia S. Kupfer, Daniel G. Coit, Paul F. Mansfield, Andrew Latchford, Ana Sofia Ribeiro, Rebecca C. Fitzgerald, Anthony E. Reeve, Nicola Bougen-Zhukov, Patrick R. Benusiglio, Enrique Norero, Kimberley Gamet, Erin Gardner, Andrew A. Sporle, Patrícia Carneiro, Joao Sanches, Johanna L. D'Addario, Marc Tischkowitz, Maybelle McLeod, Tom Brew, Elizabeth C. Monroe, Alex Boussioutas, Rachel S. van der Post, Nicoline Hoogerbrugge, Mark D. Muller, Simone Busija, Haruhiko Sugimura, Irene Gullo, Tanya M. Bisseling, Karyn Paringatai, Liying Zhang, Joana Paredes, Raquel Seruca, David G. Huntsman, Karen E Chelcun Schreiber, James M. Ford, Jeremy Rossaak, Vanessa Blair, Amanda Charlton, Susan Parry, Takeshi Nakajima, Massimiliano di Pietro, C. J. Lintott, Adrian Claydon, and Annemieke Cats
- Subjects
0301 basic medicine ,Oncology ,medicine.medical_specialty ,medicine.medical_treatment ,Lobular carcinoma ,Article ,Cancer syndrome ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Germline mutation ,Neoplastic Syndromes, Hereditary ,Stomach Neoplasms ,Internal medicine ,medicine ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,Humans ,Genetic testing ,medicine.diagnostic_test ,business.industry ,Cancer ,medicine.disease ,030104 developmental biology ,030220 oncology & carcinogenesis ,Gastrectomy ,Hereditary diffuse gastric cancer ,business - Abstract
Contains fulltext : 225261.pdf (Publisher’s version ) (Closed access) 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.
- Published
- 2020