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Samuel M O'Toole Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Judit Dénes Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Mercedes Robledo Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Constantine A Stratakis Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Márta Korbonits Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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). Mutations in any of the four genes encoding the SDH subunits ( SDHx; SDHA, SDHB, SDHC, SDHD ) or its associated assembly factor ( SDHAF2 ) can result in hereditary phaeo/PGL. SDHx mutations are also responsible for some cases of Carney-Stratakis syndrome

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-15-0241
Volume/Issue:
Volume 22: Issue 4
Free access
Arthur S Tischler Department of Pathology and Laboratory Medicine, Department of Pathology, Department of Pathology, Tufts Medical Center, Tufts University School of Medicine, 800 Washington Street, Box 802, Boston, Massachusetts 02111, USA

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Ronald R deKrijger Department of Pathology and Laboratory Medicine, Department of Pathology, Department of Pathology, Tufts Medical Center, Tufts University School of Medicine, 800 Washington Street, Box 802, Boston, Massachusetts 02111, USA
Department of Pathology and Laboratory Medicine, Department of Pathology, Department of Pathology, Tufts Medical Center, Tufts University School of Medicine, 800 Washington Street, Box 802, Boston, Massachusetts 02111, USA

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as both a screening procedure to triage patients who present with a pheochromocytoma or paraganglioma for genetic testing and as an indicator of whether other tumors in those patients are legitimate components of an SDHx -related syndrome or

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-15-0261
Volume/Issue:
Volume 22: Issue 4
Free access
Lucie Evenepoel Pole of Cardiovascular Research, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium
Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium

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Raphaël Helaers Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium

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Laurent Vroonen Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, Liège, Belgium

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Selda Aydin Pathology Department, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Marc Hamoir Otolaryngology Department, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Dominique Maiter Endocrinology Department, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Miikka Vikkula Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium

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Alexandre Persu Pole of Cardiovascular Research, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium
Cardiology Department, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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SDHB and 1 MAX ) ( Fig. 1 ). Using gene expression profiling, PPGLs can be classified in two clusters: Cluster 1 (hypoxia cluster) containing SDHx -, FH - and VHL -related tumors, and Cluster 2 (kinase signaling cluster) including MAX- , NF1

Article Type:
Letter
DOI:
https://doi.org/10.1530/ERC-17-0061
Volume/Issue:
Volume 24: Issue 8
Free access
Eamonn R Maher Department of Medical Genetics, Department of Clinical Genetics, University of Cambridge, Cambridge, UK and
Department of Medical Genetics, Department of Clinical Genetics, University of Cambridge, Cambridge, UK and

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were shown to be associated with increased HIF2 stability (transcriptional profiles were available for two tumours and these clustered with the pseudohypoxic group that contained tumours associated with VHL and SDHX mutations). In summary, recent

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-13-0146
Volume/Issue:
Volume 20: Issue 3
Free access
Marta Vaquero Department of Experimental Medicine, Universitat de Lleida/Institut de Recerca Biomèdica de Lleida, Lleida, Spain

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Anna Macià Department of Experimental Medicine, Universitat de Lleida/Institut de Recerca Biomèdica de Lleida, Lleida, Spain

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Carlos Anerillas Department of Experimental Medicine, Universitat de Lleida/Institut de Recerca Biomèdica de Lleida, Lleida, Spain

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Ana Velasco Department of Pathology, Universitat de Lleida/Institut de Recerca Biomèdica de Lleida, Lleida, Spain

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Xavier Matias-Guiu Department of Pathology, Universitat de Lleida/Institut de Recerca Biomèdica de Lleida, Lleida, Spain

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Joan Ribera Department of Experimental Medicine, Universitat de Lleida/Institut de Recerca Biomèdica de Lleida, Lleida, Spain

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Mario Encinas Department of Experimental Medicine, Universitat de Lleida/Institut de Recerca Biomèdica de Lleida, Lleida, Spain
Department of Pathology, Universitat de Lleida/Institut de Recerca Biomèdica de Lleida, Lleida, Spain

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clusters characterized by distinct expression signatures ( Gimenez-Roqueplo et al. 2012 ). Cluster 1 (comprising mutations of SDHx , FH , VHL , or HIF2A ( EPAS1 )) presents a pseudo-hypoxia signature characterized by a switch from oxidative

Article Type:
Letter
DOI:
https://doi.org/10.1530/ERC-15-0585
Volume/Issue:
Volume 23: Issue 4
Free access
Yilun Deng Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), San Antonio, Texas, USA

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Shahida K Flores Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), San Antonio, Texas, USA

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ZiMing Cheng Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), San Antonio, Texas, USA

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Yuejuan Qin Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), San Antonio, Texas, USA

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Robin C Schwartz Department of Genetics and Genome Sciences, UCONN Health, Farmington, Connecticut, USA
University of Connecticut Carole and Ray Neag Comprehensive Cancer Center, Farmington, Connecticut, USA

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Carl Malchoff University of Connecticut Carole and Ray Neag Comprehensive Cancer Center, Farmington, Connecticut, USA

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Patricia L M Dahia Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), San Antonio, Texas, USA

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Grebe SK Smith SC Erickson LA 2017 Primary renal paragangliomas and renal neoplasia associated with pheochromocytoma/paraganglioma: analysis of von Hippel-Lindau (VHL), succinate dehydrogenase (SDHX) and transmembrane protein 127 (TMEM127

Article Type:
Letter
DOI:
https://doi.org/10.1530/ERC-17-0359
Volume/Issue:
Volume 24: Issue 11
Free access
J Crona Department of Medical Sciences, Uppsala University, Uppsala, Sweden

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F Beuschlein Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, UniversitätsSpital Zürich, Zürich, Switzerland

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K Pacak Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, Bethesda, Maryland, USA

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B Skogseid Department of Medical Sciences, Uppsala University, Uppsala, Sweden

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gene carriers Mutations in succinate dehydrogenase subunits A–D ( SDHx) were thought to have almost complete penetrance for PPGL. This figure has now been adjusted, a finding of major importance when designing surveillance protocols for healthy

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-18-0138
Volume/Issue:
Volume 25: Issue 7
Open access
Aguirre A de Cubas Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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L Javier Leandro-García Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Francesca Schiavi Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Veronika Mancikova Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Iñaki Comino-Méndez Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Lucía Inglada-Pérez Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Manuel Perez-Martinez Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Nuria Ibarz Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Pilar Ximénez-Embún Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Elena López-Jiménez Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Agnieszka Maliszewska Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Rocío Letón Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Álvaro Gómez Graña Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Carmen Bernal Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Cristina Álvarez-Escolá Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Cristina Rodríguez-Antona Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Giuseppe Opocher Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Javier Muñoz Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Diego Megias Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Alberto Cascón Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Mercedes Robledo Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, Familial Cancer Clinic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Confocal Microscopy Unit, Proteomics Unit, Endocrinology and Nutrition Service, Endocrinology and Nutrition Service, Department of Medical and Surgical Sciences, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, Spain

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et al . 2013 , Pacak et al . 2013 , Taieb et al . 2013 , Toledo et al . 2013 , Yang et al . 2013 ). More specifically, ‘cluster 1’, containing VHL - and SDHx -related tumors, is associated with a pseudohypoxic gene signature, while RET

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-12-0183
Volume/Issue:
Volume 20: Issue 4
Free access
E Kim Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia

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E M Rath Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia

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V H M Tsang Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia
Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia

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A P Duff Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia

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B G Robinson Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia
Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia

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W B Church Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia

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D E Benn Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia

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T Dwight Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia

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R J Clifton-Bligh Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia
Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia

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subjects carrying SDHx mutations ( Lenders et al . 2014 ); however, penetrance of disease is highly variable, which therefore burdens many asymptomatic individuals with lifetime screening for low-risk events ( Benn et al . 2006 ). Genotype

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-15-0099
Volume/Issue:
Volume 22: Issue 3
Free access
Patricia L M Dahia Division of Hematology and Medical Oncology, Department of Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA

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Roderick Clifton-Bligh Department of Endocrinology, Royal North Shore Hospital, Northern Clinical School, Kolling Institute of Medical Research, University of Sydney, Sydney, New South Wales, Australia

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Anne-Paule Gimenez-Roqueplo AP-HP, Hôpital Européen Georges Pompidou, Genetics Department, Paris, France
Human Cancer Genetics Program, Spanish National Cancer Research Center, Madrid, Spain

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Mercedes Robledo AP-HP, Hôpital Européen Georges Pompidou, Genetics Department, Paris, France
Human Cancer Genetics Program, Spanish National Cancer Research Center, Madrid, Spain

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Camilo Jimenez Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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(also known as the Krebs cycle) protein such as SDHx ( SDHA , -B,-C,-D,-F2 ), FH , MDH2 , SLC25A11 , GOT2 , and so on. ( Castro-Vega et al. 2014 , Cascon et al. 2015 , Remacha et al. 2017 , Buffet et al. 2018 ). The subcluster C1A

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-19-0435
Volume/Issue:
Volume 27: Issue 8
Free access