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Adam I Kaplan Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia
Department of Endocrinology, Royal North Shore Hospital, Sydney, Australia

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Trisha Dwight Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, Australia

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Catherine Luxford Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, Australia

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Diana E Benn Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, Australia

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Roderick J Clifton-Bligh Department of Endocrinology, Royal North Shore Hospital, Sydney, Australia
Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, Australia

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Introduction Phaeochromocytomas and paragangliomas (collectively termed PPGL) are rare neuroendocrine tumours originating from chromaffin cells of the adrenal medulla, and neuroendocrine paraganglia, respectively. Paragangliomas (PGLs) are

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N Tufton Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK
Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust. West Smithfield, London, UK

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R J Hearnden Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK

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D M Berney Department of Pathology, Royal London Hospital, Whitechapel, London, UK

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W M Drake Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK
Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust. West Smithfield, London, UK

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L Parvanta Department of Endocrine Surgery, St Bartholomew’s Hospital, Barts Health NHS Trust, West Smithfield, London, UK

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J P Chapple Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK

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S A Akker Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK
Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust. West Smithfield, London, UK

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Introduction Phaeochromocytoma and paragangliomas (PPGLs) are rare neuroendocrine tumours of the autonomic nervous system that can arise anywhere from the skull base to the pelvic floor and may secrete catecholamines. All PPGLs should be

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Dahlia F Davidoff Cancer Genetics, Kolling Institute, Royal North Shore Hospital, St Leonards, New South Wales, Australia
University of Sydney, Camperdown, New South Wales, Australia
Department of Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia

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Eugénie S Lim Department of Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK
Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK

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Diana E Benn Cancer Genetics, Kolling Institute, Royal North Shore Hospital, St Leonards, New South Wales, Australia
University of Sydney, Camperdown, New South Wales, Australia

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Yuvanaa Subramaniam Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK

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Eleanor Dorman Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK

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John R Burgess Department of Diabetes and Endocrinology, Royal Hobart Hospital, Hobart, Tasmania, Australia
School of Medicine, University of Tasmania, Hobart, Tasmania, Australia

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Scott A Akker Department of Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK
Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK

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Roderick J Clifton-Bligh Cancer Genetics, Kolling Institute, Royal North Shore Hospital, St Leonards, New South Wales, Australia
University of Sydney, Camperdown, New South Wales, Australia
Department of Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia

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Introduction The phaeochromocytoma and paraganglioma (PPGL) tumour group is the most heritable of tumours, with at least 40% of cases arising from a pathogenic germline mutation ( Dahia 2014 ). Of these, around half are caused by pathogenic

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Diana E Benn Cancer Genetics, Kolling Institute, Royal North Shore Hospital, University of Sydney, St Leonards, New South Wales 2065, Australia

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Bruce G Robinson Cancer Genetics, Kolling Institute, Royal North Shore Hospital, University of Sydney, St Leonards, New South Wales 2065, Australia

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Roderick J Clifton-Bligh Cancer Genetics, Kolling Institute, Royal North Shore Hospital, University of Sydney, St Leonards, New South Wales 2065, Australia

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Introduction Phaeochromocytomas (PCs) are tumours in the adrenal medulla, and paragangliomas (PGLs) arise in extra-adrenal sympathetic chromaffin tissue or head and neck parasympathetic tissues. Familial occurrence of PGLs was first reported in 1933

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Paul Benjamin Loughrey Patrick G Johnston Centre for Cancer Research, Queen’s University, Belfast, UK
Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Federico Roncaroli Geoffrey Jefferson Brain Research Centre, Division of Neuroscience and Experimental Psychology, School of Medicine, Manchester University, Manchester, UK

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Estelle Healy Department of Cellular Pathology, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Philip Weir Department of Neurosurgery, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Madhu Basetti Cancer Research UK Cambridge Institute, Li Ka Shing Centre, University of Cambridge, Cambridge, UK

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Ruth T Casey Department of Endocrinology, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

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Steven J Hunter Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Márta Korbonits Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK

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Introduction Primary tumours of adenohypophyseal cells recently suggested to be redefined as pituitary neuroendocrine tumours (PitNETs) can rarely occur in association with paraganglioma (PGL) or phaeochromocytoma. These tumours may develop in

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Caroline D E Margetts Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Mark Morris Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Dewi Astuti Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Dean C Gentle Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Alberto Cascon Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Fiona E McRonald Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Daniel Catchpoole Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Mercedes Robledo Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Hartmut P H Neumann Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Farida Latif Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Eamonn R Maher Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Introduction Neuroblastoma and phaeochromocytoma are the commonest neural crest-derived tumours in children and adults respectively. Most phaeochromocytomas are benign catecholamine-producing tumours arising within the adrenal medulla, but may be

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Dewi Astuti Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Christopher J Ricketts Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Rasheduzzaman Chowdhury Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Michael A McDonough Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Dean Gentle Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Gail Kirby Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Susanne Schlisio Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Rajappa S Kenchappa Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Bruce D Carter Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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William G Kaelin Jr Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Peter J Ratcliffe Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Christopher J Schofield Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Farida Latif Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Eamonn R Maher Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Introduction Germline mutations in the von Hippel–Lindau ( VHL ) tumour suppressor gene and in the B, C and D subunits of succinate dehydrogenase ( SDHB , SDHC and SDHD ) are strongly linked with susceptibility to phaeochromocytoma ( Latif et al

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Rodrigo A Toledo Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Roxanne Hatakana Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Delmar M Lourenço Jr Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Susan C Lindsey Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Cleber P Camacho Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Marcio Almeida Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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José V Lima Jr Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Tomoko Sekiya Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Elena Garralda Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Michel S Naslavsky Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Guilherme L Yamamoto Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Monize Lazar Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Osorio Meirelles Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Tiago J P Sobreira Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Maria Lucia Lebrao Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Yeda A O Duarte Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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John Blangero Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Mayana Zatz Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Janete M Cerutti Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Rui M B Maciel Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Sergio P A Toledo Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil
Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Introduction MEN2 (MIM #164761) is a dominantly inherited multiglandular tumour syndrome that presents with a high penetrance of medullary thyroid carcinoma (MTC; observed in virtually 100% of cases), phaeochromocytoma (50%) and parathyroid adenoma

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Ruth T Casey Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK
Department of Endocrinology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Benjamin G Challis Department of Endocrinology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Alison Marker Department of Histopathology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Deborah Pitfield Department of Endocrinology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Heok K Cheow Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Ashley Shaw Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Soo-Mi Park Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK

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Helen L Simpson Department of Diabetes and Endocrinology, University College London Hospitals, NHS Foundation Trust, London, UK

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Eamonn R Maher Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK

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the development of phaeochromocytoma (PC) and PGL tumours over 15 years ago, SDHA was first associated with PGL only seven years ago ( Burnichon et al . 2010 ) and, more recently, with wild-type gastrointestinal stromal tumours (WT GIST) ( Evenepoel

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Camilo Jimenez University of Texas MD Anderson Cancer Center, Houston, Texas, USA

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Bennett B Chin University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA

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Richard B Noto Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA

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Joseph S Dillon University of Iowa, Iowa City, Iowa, USA

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Lilja Solnes Johns Hopkins Medicine, Baltimore, Maryland, USA

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Nancy Stambler Progenics Pharmaceuticals, Inc., a Lantheus Company, North Billerica, Massachusetts, USA

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Vincent A DiPippo Progenics Pharmaceuticals, Inc., a Lantheus Company, North Billerica, Massachusetts, USA

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Daniel A Pryma Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA

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T Kakoi N Rakugi H Ikeda Y Tanabe A Nigawara T 2014 Pathological grading for predicting metastasis in phaeochromocytoma and paraganglioma . Endocrine-Related Cancer 21 405 – 414 . ( https://doi.org/10.1530/ERC-13-0494 ) Kunz PL Reidy

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