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Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

Fitzgerald, Rebecca C ; Hardwick, Richard ; Huntsman, David ; Carneiro, Fatima ; Guilford, Parry ; Blair, Vanessa ; Chung, Daniel C ; Norton, Jeff ; Ragunath, Krishnadath ; Van Krieken, J Han ; Dwerryhouse, Sarah ; Caldas, Carlos

Journal of medical genetics, 2010-07, Vol.47 (7), p.436-444 [Revista revisada por pares]

London: BMJ Publishing Group Ltd

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  • Título:
    Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
  • Autor: Fitzgerald, Rebecca C ; Hardwick, Richard ; Huntsman, David ; Carneiro, Fatima ; Guilford, Parry ; Blair, Vanessa ; Chung, Daniel C ; Norton, Jeff ; Ragunath, Krishnadath ; Van Krieken, J Han ; Dwerryhouse, Sarah ; Caldas, Carlos
  • Materias: Adult ; Age ; Algorithms ; Biological and medical sciences ; Breast cancer ; Cadherins - genetics ; Counseling ; Databases, Factual ; Decision Support Systems, Clinical ; Decision Trees ; Diagnosis, Differential ; Disease Management ; DNA methylation ; Endoscopy ; Endoscopy, Gastrointestinal ; Epithelium ; Female ; Fundamental and applied biological sciences. Psychology ; Gastric cancer ; Gastric Mucosa ; gastroenterology ; Gastroenterology. Liver. Pancreas. Abdomen ; Gastrointestinal surgery ; General aspects. Genetic counseling ; Genetic Counseling ; Genetic testing ; Genetics of eukaryotes. Biological and molecular evolution ; Guidelines ; Histocytochemistry ; Humans ; Laboratories ; Male ; Medical genetics ; Medical sciences ; Molecular and cellular biology ; Mutation ; Neoplastic Syndromes, Hereditary - diagnosis ; Neoplastic Syndromes, Hereditary - genetics ; Neoplastic Syndromes, Hereditary - prevention & control ; Original ; Practice Guidelines as Topic ; Stomach Neoplasms - diagnosis ; Stomach Neoplasms - genetics ; Stomach Neoplasms - prevention & control ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Tumors
  • Es parte de: Journal of medical genetics, 2010-07, Vol.47 (7), p.436-444
  • Notas: istex:DA54EE75B59F71D12EA599AD729AEC024FC845F8
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    These guidelines are the result of consensus statements agreed during the seventh workshop of the International Gastric Cancer Linkage Consortium (IGCLC) held on 20-21 November 2008 at the Cambridge Research Institute, Cambridge UK 2008
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    Workshop participants: Mr William Allum, Consultant Upper GI Surgeon, Royal Marsden Hospital, London, UK; Mr Stephen Attwood, Consultant Upper GI and Laparoscopic Surgeon, Northumbria Healthcare Trust, UK; Dr Vanessa Blair, Surgical Research Fellow, University of Otago, New Zealand; Nicola Bradshaw, MacMillan Cancer Genetic Counsellor, Glasgow, UK; Dr Carole Brewer, Consultant in Clinical Genetics, Royal Devon & Exeter Hospital, UK; Prof. Carlos Caldas, Professor of Cancer Medicine, CR UK Cambridge Research Institute, UK; Prof. Fatima Carneiro, Professor of Pathology, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) and Medical Faculty of Porto/Hospital S. João, Porto, Portugal; Dr Annemieke Cats, Head of Department of Gastroenterology and Hepatology, Netherlands Cancer Institute/Antoni van Leeuwenhoek Hospital, Plesmanlaan, Amsterdam, The Netherlands; Dr Amanda Charlton, Hon. Senior Clinical Lecturer, Faculty Medical and Health Sciences, Imoversity of Auckland, New Zealand; Daniel C. Chung MD, Director, GI Cancer Genetics Clinic, Gastrointestinal Unit, Massachusetts General Hospital, Boston; Associate Professor in Medicine, Harvard Medical School, USA; Dr Trevor Cole, Geneticist, Birmingham Women's Hospital, Edgbaston, Birmingham, UK; Dr Gianni Corso, Department of General Surgery and Surgical Oncology, University of Siena, Italy; Prof. Jean Crabtree, Professor of Experimental Pathology, Leeds Institute Molecular Medicine, University of Leeds, UK; Dr Huw Dorkins, Consultant Clinical Geneticist, The Kennedy-Galton Centre, Harrow; UK; Sarah Downing, Genetic Counsellor, Addenbrooke's Hospital, Cambridge, UK; Dr Jason Dunn, Research Fellow, UCLH, London, UK; Sarah Dwerryhouse, Co-ordinator, Cancer Research UK Familial Gastric Cancer Study, UK; Dr Peter Fairclough, Consultant Gastroenterologist, Barts and The London NHS Trust, UK; Dr Rebecca Fitzgerald, Programme Leader & Hon. Consultant Gastroenterologist, Cambridge, UK; Dr James Going, Senior Lecturer, Pathology, Glasgow Royal Infirmary, UK; Samantha Grimes, Dietician, Addenbrooke's Hospital, Cambridge, UK; Prof. Parry Guilford, Associate Professor, Cancer Genetics Laboratory, University of Otago, New Zealand; Mr Mike Hallissey, Consultant in General Surgery, Queen Elizabeth Hospital, Birmingham, UK; Nina Hallowell PhD, Public Health Sciences, Pathology, University of Edinburgh, UK; Mr Richard Hardwick, Consultant Upper GI Surgeon, Cambridge, UK; Prof. Nicoline Hoogerbrugge, PI molecular basis of hereditary cancer, Associate Professor and Head of Hereditary Cancer Clinic, Radboud University Nijmegen Medical Centre, The Netherlands; Dr Laetitia Huiart, Department of Oncogenetics, Institut Paoli-Calmettes, Marseille, France; Prof. David Huntsman, British Columbia Cancer Agency, Vancouver, Canada; Dr Gisela Keller, Institute of Pathology, Munich, Germany; Dr Ann Kershaw, Consultant Genetic Counsellor, Addenbrooke's Hospital, Cambridge, UK; Dr Ajith Kumar, Consultant in Clinical Genetics, Great Ormond Street Hospital, London, UK; Dr Laurence Lovat, Consultant Gastroenterologist & Senior Lecturer in Laser Medicine, UCLH, London, UK; Professor Ken McColl, Head of Division of Gastroenterology, Gardiner Institute, Glasgow, UK; Dr Shane McKee, Consultant Clinical Geneticist, Belfast City Hospital, UK; Dr Jeffrey Norton, Professor of Surgery, Stanford University, USA; Dr Maria O'Donovan, Pathologist, Addenbrooke's Hospital, Cambridge, UK; Dr Carla Oliveira, Research Scientist, IPATIMUP, Portugal; Dr Sylvianne Olschwang, Geneticist, Department of Molecular Oncology, Institut Paoli-Calmettes, Marseille, France and INSERM U891; Centre de Recherche en Cancérologie de Marseille, France; Mr Bijendra P Patel, Clinical Senior Lecturer and Consultant Upper GI Surgeon, Director of Surgical Skills Unit, Barts and The Royal London Hospital NHS Trust, UK; Dr Joan Paterson, Consultant, Clinical Genetics, Cambridge, UK; Dr Corrado Pedrazzani, Clinical-Research Senior Fellow in Surgical Oncology, Department of Human Pathology and Oncology, Unit of Surgical Oncology, University of Siena, Italy; Dr Paul Pharoah, Genetic Epidemiologist, Cambridge, UK; Dr Krish Ragunath, Associate Professor in Endoscopy, Wolfson Digestive Diseases Centre, Queens Medical Centre, Nottingham University Hospitals NHS Trust, UK; Dr Franco Roviello, Associate Professor of Surgery, Department of General Surgery and Surgical Oncology, University of Siena, Italy; Dr Vicki Save, Consultant Histopathologist, Royal Infirmary of Edinburgh, UK; Dr Siobhan Sengupta, Lecturer in Human Genetics, UCL Centre for Preimplantation Genetic Diagnosis, London, UK; Dr Raquel Seruca, Research Scientist, IPATIMUP, Portugal; Manish A. Shah MD, Medical Oncologist, Memorial Sloan Kettering Cancer Centre, New York, USA; Dr Hubert Stein, Professor of Surgery, Paracelsus Private Medical University, Salzburg, Austria; Dr Nicola Van Krieken, Pathologist, Amsterdam, The Netherlands; Prof.dr. J Han van Krieken, PI in Pathology, Radboud University Nijmegen Medical Centre, The Netherlands; Dr Matthew Wallis, Consultant Radiologist, Addenbrooke's Hospital, Cambridge, UK; Dr Debrah Wirtzfeld, Head, Surgical Oncology, CancerCare Manitoba, Associate Professor of Surgery, Oncology and Community Health Sciences, University of Manitoba, Canada. The workshop participants wish to thank Christine Fox for secretarial support and for all travel and accommodation arrangements.
  • Descripción: 25–30% of families fulfilling the criteria for hereditary diffuse gastric cancer have germline mutations of the CDH1 (E-cadherin) gene. In light of new data and advancement of technologies, a multidisciplinary workshop was convened to discuss genetic testing, surgery, endoscopy and pathology reporting. The updated recommendations include broadening of CDH1 testing criteria such that: histological confirmation of diffuse gastric criteria is only required for one family member; inclusion of individuals with diffuse gastric cancer before the age of 40 years without a family history; and inclusion of individuals and families with diagnoses of both diffuse gastric cancer (including one before the age of 50 years) and lobular breast cancer. Testing is considered appropriate from the age of consent following counselling and discussion with a multidisciplinary team. In addition to direct sequencing, large genomic rearrangements should be sought. Annual mammography and breast MRI from the age of 35 years is recommended for women due to the increased risk for lobular breast cancer. In mutation positive individuals prophylactic total gastrectomy at a centre of excellence should be strongly considered. Protocolised endoscopic surveillance in centres with endoscopists and pathologists experienced with these patients is recommended for: those opting not to have gastrectomy, those with mutations of undetermined significance, and in those families for whom no germline mutation is yet identified. The systematic histological study of prophylactic gastrectomies almost universally shows pre-invasive lesions including in situ signet ring carcinoma with pagetoid spread of signet ring cells. Expert histopathological confirmation of these early lesions is recommended.
  • Editor: London: BMJ Publishing Group Ltd
  • Idioma: Inglés
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