Filter

Refine by collections

Refine by date

—

Refine by access

  • Print
  • Save

Search Results

You are looking at 81 - 90 of 91 items for :

  • Refine by access: All content x
Clear All
Pamela Brock Divison of Human Genetics, Department of Internal Medicine and the Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA

Search for other papers by Pamela Brock in
Google Scholar
PubMed Close
,
Jennifer L Geurts Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA

Search for other papers by Jennifer L Geurts in
Google Scholar
PubMed Close
,
Paulien Van Galen Hereditary Cancer Clinic and Hereditary Endocrine Clinic, Alberta Children’s Hospital, Calgary, Alberta, USA

Search for other papers by Paulien Van Galen in
Google Scholar
PubMed Close
,
Erica Blouch Center for Cancer Risk Assessment, Massachusetts General Hospital, Boston, Massachusetts, USA

Search for other papers by Erica Blouch in
Google Scholar
PubMed Close
,
James Welch Metabolic Disease Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, Maryland, USA

Search for other papers by James Welch in
Google Scholar
PubMed Close
,
Amy Kunz Allegheny Health Network Cancer Institute, Pittsburgh, Pennsylvania, USA

Search for other papers by Amy Kunz in
Google Scholar
PubMed Close
,
Lauren Desrosiers Texas Children’s Hospital, Baylor College of Medicine, Houston, Texas, USA

Search for other papers by Lauren Desrosiers in
Google Scholar
PubMed Close
,
Jennifer Gauerke Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, Minnesota, USA

Search for other papers by Jennifer Gauerke in
Google Scholar
PubMed Close
, and
Samuel Hyde Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA

Search for other papers by Samuel Hyde in
Google Scholar
PubMed Close

evaluate the clinical validity of gene-disease relationships, for which an evidence-based framework has been published and a hereditary cancer working group convened that has already curated many HEN genes, including the SDHx genes, MAX , TMEM127 , CDC

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-19-0454
Volume/Issue:
Volume 27: Issue 8
Free access
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

Search for other papers by Rodrigo A Toledo in
Google Scholar
PubMed Close
,
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

Search for other papers by Roxanne Hatakana in
Google Scholar
PubMed Close
,
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

Search for other papers by Delmar M Lourenço Jr in
Google Scholar
PubMed Close
,
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

Search for other papers by Susan C Lindsey in
Google Scholar
PubMed Close
,
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

Search for other papers by Cleber P Camacho in
Google Scholar
PubMed Close
,
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

Search for other papers by Marcio Almeida in
Google Scholar
PubMed Close
,
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

Search for other papers by José V Lima Jr in
Google Scholar
PubMed Close
,
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

Search for other papers by Tomoko Sekiya in
Google Scholar
PubMed Close
,
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

Search for other papers by Elena Garralda in
Google Scholar
PubMed Close
,
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

Search for other papers by Michel S Naslavsky in
Google Scholar
PubMed Close
,
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

Search for other papers by Guilherme L Yamamoto in
Google Scholar
PubMed Close
,
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

Search for other papers by Monize Lazar in
Google Scholar
PubMed Close
,
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

Search for other papers by Osorio Meirelles in
Google Scholar
PubMed Close
,
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

Search for other papers by Tiago J P Sobreira in
Google Scholar
PubMed Close
,
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

Search for other papers by Maria Lucia Lebrao in
Google Scholar
PubMed Close
,
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

Search for other papers by Yeda A O Duarte in
Google Scholar
PubMed Close
,
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

Search for other papers by John Blangero in
Google Scholar
PubMed Close
,
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

Search for other papers by Mayana Zatz in
Google Scholar
PubMed Close
,
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

Search for other papers by Janete M Cerutti in
Google Scholar
PubMed Close
,
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

Search for other papers by Rui M B Maciel in
Google Scholar
PubMed Close
, and
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

Search for other papers by Sergio P A Toledo in
Google Scholar
PubMed Close

. Phaeochromocytoma patients initially reported to be RET Y791F-only carriers can harbour variants of other genes, e.g. VHL or SDHx , that are most probably the cause of the disease. Lesson from finding 4: Established clinical predictors and algorithms should be

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-14-0491
Volume/Issue:
Volume 22: Issue 1
Open access
Erwan Thouënnon
Search for other papers by Erwan Thouënnon in
Google Scholar
PubMed Close
,
Alice Pierre
Search for other papers by Alice Pierre in
Google Scholar
PubMed Close
,
Yannick Tanguy
Search for other papers by Yannick Tanguy in
Google Scholar
PubMed Close
,
Johann Guillemot
Search for other papers by Johann Guillemot in
Google Scholar
PubMed Close
,
Destiny-Love Manecka
Search for other papers by Destiny-Love Manecka in
Google Scholar
PubMed Close
,
Marlène Guérin
Search for other papers by Marlène Guérin in
Google Scholar
PubMed Close
,
L'houcine Ouafik INSERM, INSERM, Endocrinology Unit, Department of Endocrinology, Department of Endocrinology, Hypertension Unit, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication (DC2N), IFRMP23, University of Rouen, 76821 Mont-Saint-Aignan, France

Search for other papers by L'houcine Ouafik in
Google Scholar
PubMed Close
,
Mihaela Muresan INSERM, INSERM, Endocrinology Unit, Department of Endocrinology, Department of Endocrinology, Hypertension Unit, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication (DC2N), IFRMP23, University of Rouen, 76821 Mont-Saint-Aignan, France

Search for other papers by Mihaela Muresan in
Google Scholar
PubMed Close
,
Marc Klein INSERM, INSERM, Endocrinology Unit, Department of Endocrinology, Department of Endocrinology, Hypertension Unit, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication (DC2N), IFRMP23, University of Rouen, 76821 Mont-Saint-Aignan, France

Search for other papers by Marc Klein in
Google Scholar
PubMed Close
,
Jérôme Bertherat INSERM, INSERM, Endocrinology Unit, Department of Endocrinology, Department of Endocrinology, Hypertension Unit, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication (DC2N), IFRMP23, University of Rouen, 76821 Mont-Saint-Aignan, France

Search for other papers by Jérôme Bertherat in
Google Scholar
PubMed Close
,
Hervé Lefebvre
Search for other papers by Hervé Lefebvre in
Google Scholar
PubMed Close
,
Pierre-François Plouin INSERM, INSERM, Endocrinology Unit, Department of Endocrinology, Department of Endocrinology, Hypertension Unit, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication (DC2N), IFRMP23, University of Rouen, 76821 Mont-Saint-Aignan, France

Search for other papers by Pierre-François Plouin in
Google Scholar
PubMed Close
,
Laurent Yon
Search for other papers by Laurent Yon in
Google Scholar
PubMed Close
, and
Youssef Anouar
Search for other papers by Youssef Anouar in
Google Scholar
PubMed Close

Endocrinology and Metabolism 92 4865 – 4872 . Timmers H Gimenez-Roqueplo AP Mannelli M Pacak K 2009 Clinical aspects of SDHx-related pheochromocytoma and paraganglioma . Endocrine-Related Cancer 16 391 – 400 . Turquier V Yon L Grumolato

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-10-0109
Volume/Issue:
Volume 17: Issue 3
Free access
Giulia Vocino Trucco Pathology Unit, SS. Annunziata Hospital, Savigliano, Italy

Search for other papers by Giulia Vocino Trucco in
Google Scholar
PubMed Close
and
Marco Volante Department of Oncology, University of Turin, Orbassano, Turin, Italy

Search for other papers by Marco Volante in
Google Scholar
PubMed Close

immunohistochemistry may be used also as a complement to genetic testing. For example, in paragangliomas, loss of SDHB expression serves as a surrogate biomarker for SDHx alterations (such as germline mutations in SDHA , SDHB , SDHC , SDHD , and SDHAF2

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-24-0004
Volume/Issue:
Volume 31: Issue 8
Restricted access
Fredrika Svahn Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Fredrika Svahn in
Google Scholar
PubMed Close
,
Karolina Solhusløkk Höse Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Karolina Solhusløkk Höse in
Google Scholar
PubMed Close
,
Adam Stenman Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Breast, Endocrine Tumors and Sarcoma, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Adam Stenman in
Google Scholar
PubMed Close
,
Yaxuan Liu Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Department of Breast Surgery, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

Search for other papers by Yaxuan Liu in
Google Scholar
PubMed Close
,
Jan Calissendorff Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Jan Calissendorff in
Google Scholar
PubMed Close
,
Emma Tham Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Emma Tham in
Google Scholar
PubMed Close
,
Ákos Végvári Division of Chemistry I, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Ákos Végvári in
Google Scholar
PubMed Close
,
Roman A Zubarev Division of Chemistry I, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Roman A Zubarev in
Google Scholar
PubMed Close
,
Na Wang Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Department of Medicine Huddinge, Karolinska Institutet, Huddinge, Sweden

Search for other papers by Na Wang in
Google Scholar
PubMed Close
,
Reju Korah Yale Endocrine Neoplasia Laboratory, Department of Surgery, Yale School of Medicine, New Haven, Connecticut, USA

Search for other papers by Reju Korah in
Google Scholar
PubMed Close
,
Tobias Carling Yale Endocrine Neoplasia Laboratory, Department of Surgery, Yale School of Medicine, New Haven, Connecticut, USA
Carling Adrenal Center, Tampa, Florida, USA

Search for other papers by Tobias Carling in
Google Scholar
PubMed Close
,
Jan Zedenius Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Breast, Endocrine Tumors and Sarcoma, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Jan Zedenius in
Google Scholar
PubMed Close
,
Robert Bränström Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Breast, Endocrine Tumors and Sarcoma, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Robert Bränström in
Google Scholar
PubMed Close
,
C Christofer Juhlin Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Department of Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital Stockholm, Sweden

Search for other papers by C Christofer Juhlin in
Google Scholar
PubMed Close
, and
Catharina Larsson Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Catharina Larsson in
Google Scholar
PubMed Close

status and/or mRNA expression profile, tumors were assigned as cluster 1 ( SDHx , VHL , EPAS1, and EGLN1 ) or cluster 2 ( RET , NF1 , TMEM127 , MAX , and HRAS ). Fresh frozen tumor tissue samples were collected from the local Biobank for all 97

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-23-0061
Volume/Issue:
Volume 31: Issue 9
Open access
Anna Angelousi Department of Pathophysiology, Sector of Endocrinology, National & Kapodistrian University of Athens, Athens, Greece

Search for other papers by Anna Angelousi in
Google Scholar
PubMed Close
,
Georgios K Dimitriadis Division of Translational and Experimental Medicine, University of Warwick Medical School, Clinical Sciences Research Laboratories, Coventry, UK

Search for other papers by Georgios K Dimitriadis in
Google Scholar
PubMed Close
,
Georgios Zografos Third Department of Surgery, Athens General Hospital “Georgios Gennimatas”, Athens, Greece

Search for other papers by Georgios Zografos in
Google Scholar
PubMed Close
,
Svenja Nölting Department of Internal Medicine II, Campus Grosshadern, University-Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany

Search for other papers by Svenja Nölting in
Google Scholar
PubMed Close
,
Gregory Kaltsas Department of Pathophysiology, Sector of Endocrinology, National & Kapodistrian University of Athens, Athens, Greece
Division of Translational and Experimental Medicine, University of Warwick Medical School, Clinical Sciences Research Laboratories, Coventry, UK
Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK

Search for other papers by Gregory Kaltsas in
Google Scholar
PubMed Close
, and
Ashley Grossman Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK

Search for other papers by Ashley Grossman in
Google Scholar
PubMed Close

studies have identified two main activated molecular pathways leading to the development of these tumours: the hypoxic (cluster-1 genes), mainly involving the succinate dehydrogenase ( SDHx ) and the Von Hippel-Lindau ( VHL ) genes, and the mTOR (cluster-2

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-16-0542
Volume/Issue:
Volume 24: Issue 6
Free access
Samantha Peiling Yang Endocrinology Division, Department of Medicine, National University Hospital of Singapore, Singapore, Singapore
Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

Search for other papers by Samantha Peiling Yang in
Google Scholar
PubMed Close
and
Joanne Ngeow Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre, Singapore, Singapore
Oncology Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore

Search for other papers by Joanne Ngeow in
Google Scholar
PubMed Close

Eng C 2012 Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53 . Human Molecular Genetics 21 300 – 310 . ( doi:10.1093/hmg/ddr459 ) Orloff MS He

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-16-0067
Volume/Issue:
Volume 23: Issue 12
Free access
Jan P Dumanski Department of Immunology, Genetics and Pathology and SciLifeLab, Uppsala University, Uppsala, Sweden

Search for other papers by Jan P Dumanski in
Google Scholar
PubMed Close
,
Chiara Rasi Department of Immunology, Genetics and Pathology and SciLifeLab, Uppsala University, Uppsala, Sweden

Search for other papers by Chiara Rasi in
Google Scholar
PubMed Close
,
Peyman Björklund Department of Surgical Sciences, Experimental Surgery, Uppsala University, Uppsala, Sweden

Search for other papers by Peyman Björklund in
Google Scholar
PubMed Close
,
Hanna Davies Department of Immunology, Genetics and Pathology and SciLifeLab, Uppsala University, Uppsala, Sweden

Search for other papers by Hanna Davies in
Google Scholar
PubMed Close
,
Abir S Ali Department of Medical Sciences, Endocrine Oncology, Uppsala University, Uppsala, Sweden

Search for other papers by Abir S Ali in
Google Scholar
PubMed Close
,
Malin Grönberg Department of Medical Sciences, Endocrine Oncology, Uppsala University, Uppsala, Sweden

Search for other papers by Malin Grönberg in
Google Scholar
PubMed Close
,
Staffan Welin Department of Medical Sciences, Endocrine Oncology, Uppsala University, Uppsala, Sweden

Search for other papers by Staffan Welin in
Google Scholar
PubMed Close
,
Halfdan Sorbye Department of Oncology, Haukeland University Hospital, Bergen, Norway
Department of Clinical Science, University of Bergen, Bergen, Norway

Search for other papers by Halfdan Sorbye in
Google Scholar
PubMed Close
,
Henning Grønbæk Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Henning Grønbæk in
Google Scholar
PubMed Close
,
Janet L Cunningham Department of Neuroscience, Uppsala University, Uppsala, Sweden

Search for other papers by Janet L Cunningham in
Google Scholar
PubMed Close
,
Lars A Forsberg Department of Immunology, Genetics and Pathology and SciLifeLab, Uppsala University, Uppsala, Sweden

Search for other papers by Lars A Forsberg in
Google Scholar
PubMed Close
,
Lars Lind Department of Medical Sciences, Uppsala University, Uppsala, Sweden

Search for other papers by Lars Lind in
Google Scholar
PubMed Close
,
Erik Ingelsson Division of Cardiovascular Medicine, Department of Medicine, Stanford University, San Francisco, California, USA

Search for other papers by Erik Ingelsson in
Google Scholar
PubMed Close
,
Peter Stålberg Department of Surgical Sciences, Endocrine Surgery, Uppsala University, Uppsala, Sweden

Search for other papers by Peter Stålberg in
Google Scholar
PubMed Close
,
Per Hellman Department of Surgical Sciences, Endocrine Surgery, Uppsala University, Uppsala, Sweden

Search for other papers by Per Hellman in
Google Scholar
PubMed Close
, and
Eva Tiensuu Janson Department of Medical Sciences, Endocrine Oncology, Uppsala University, Uppsala, Sweden

Search for other papers by Eva Tiensuu Janson in
Google Scholar
PubMed Close

are not enriched in frequency among all SI-NET patients, when compared to the control population. Furthermore, mutations in the SDHx genes have previously been implicated in cancer, and particularly, in forms related to SI-NETs, such as

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-17-0196
Volume/Issue:
Volume 24: Issue 8
Open access
Camilo Jimenez Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA

Search for other papers by Camilo Jimenez in
Google Scholar
PubMed Close
,
Sasan Fazeli Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA

Search for other papers by Sasan Fazeli in
Google Scholar
PubMed Close
, and
Alejandro Román-Gonzalez Department of Endocrinology and Diabetes, Universidad de Antioquia, Medellin, Colombia
Department of Endocrinology, Hospital Universitario San Vicente Fundacion, Medellin, Colombia

Search for other papers by Alejandro Román-Gonzalez in
Google Scholar
PubMed Close

mTORC1 complex is significantly overactivated in SDHX-mutated paragangliomas . Neuroendocrinology 105 384 – 393 . ( https://doi.org/10.1159/000455864 ) Parikh PP Rubio GA Farra JC Lew JI 2017 Nationwide review of hormonally active

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-20-0043
Volume/Issue:
Volume 27: Issue 7
Free access
Katharina Wang Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Katharina Wang in
Google Scholar
PubMed Close
,
Ina Schütze Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), Zurich, Switzerland

Search for other papers by Ina Schütze in
Google Scholar
PubMed Close
,
Sebastian Gulde Institute for Diabetes and Cancer (IDC), Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany

Search for other papers by Sebastian Gulde in
Google Scholar
PubMed Close
,
Nicole Bechmann Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
Department of Internal Medicine III, University Hospital Carl Gustav Carus Dresden, Technische Universität Dresden, Dresden, Germany

Search for other papers by Nicole Bechmann in
Google Scholar
PubMed Close
,
Susan Richter Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

Search for other papers by Susan Richter in
Google Scholar
PubMed Close
,
Jana Helm Department of Internal Medicine III, University Hospital Carl Gustav Carus Dresden, Technische Universität Dresden, Dresden, Germany

Search for other papers by Jana Helm in
Google Scholar
PubMed Close
,
Michael Lauseker Institute for Medical Information Processing, Biometry, and Epidemiology (IBE), Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Michael Lauseker in
Google Scholar
PubMed Close
,
Julian Maurer Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Julian Maurer in
Google Scholar
PubMed Close
,
Astrid Reul Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), Zurich, Switzerland

Search for other papers by Astrid Reul in
Google Scholar
PubMed Close
,
Gerald Spoettl Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Gerald Spoettl in
Google Scholar
PubMed Close
,
Barbara Klink Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg
German Cancer Consortium, Dresden, Germany

Search for other papers by Barbara Klink in
Google Scholar
PubMed Close
,
Doreen William German Cancer Consortium, Dresden, Germany

Search for other papers by Doreen William in
Google Scholar
PubMed Close
,
Thomas Knösel Institute of Pathology, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Thomas Knösel in
Google Scholar
PubMed Close
,
Juliane Friemel Department of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland

Search for other papers by Juliane Friemel in
Google Scholar
PubMed Close
,
Michel Bihl Department of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland

Search for other papers by Michel Bihl in
Google Scholar
PubMed Close
,
Achim Weber Department of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland

Search for other papers by Achim Weber in
Google Scholar
PubMed Close
,
Maria Fankhauser Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Maria Fankhauser in
Google Scholar
PubMed Close
,
Laura Schober Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Laura Schober in
Google Scholar
PubMed Close
,
Diana Vetter Department of Visceral and Transplantation Surgery, University Hospital, Zurich, Switzerland

Search for other papers by Diana Vetter in
Google Scholar
PubMed Close
,
Martina Broglie Däppen Department of Otorhinolaryngology, University Hospital Zurich, Zurich, Switzerland

Search for other papers by Martina Broglie Däppen in
Google Scholar
PubMed Close
,
Christian G Ziegler Department of Internal Medicine III, University Hospital Carl Gustav Carus Dresden, Technische Universität Dresden, Dresden, Germany

Search for other papers by Christian G Ziegler in
Google Scholar
PubMed Close
,
Martin Ullrich Department of Radiopharmaceutical and Chemical Biology, Institute of Radiopharmaceutical Cancer Research, Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany

Search for other papers by Martin Ullrich in
Google Scholar
PubMed Close
,
Jens Pietzsch Department of Radiopharmaceutical and Chemical Biology, Institute of Radiopharmaceutical Cancer Research, Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany
Faculty of Chemistry and Food Chemistry, School of Science, Technische Universität Dresden, Dresden, Germany

Search for other papers by Jens Pietzsch in
Google Scholar
PubMed Close
,
Stefan R Bornstein Department of Internal Medicine III, University Hospital Carl Gustav Carus Dresden, Technische Universität Dresden, Dresden, Germany

Search for other papers by Stefan R Bornstein in
Google Scholar
PubMed Close
,
Christian Lottspeich Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Christian Lottspeich in
Google Scholar
PubMed Close
,
Matthias Kroiss Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany
Division of Endocrinology and Diabetes, Department of Medicine I, University Hospital Würzburg, University of Würzburg, Würzburg, Germany

Search for other papers by Matthias Kroiss in
Google Scholar
PubMed Close
,
Martin Fassnacht Division of Endocrinology and Diabetes, Department of Medicine I, University Hospital Würzburg, University of Würzburg, Würzburg, Germany

Search for other papers by Martin Fassnacht in
Google Scholar
PubMed Close
,
Vera Ursula Julia Wenter Department of Nuclear Medicine, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Vera Ursula Julia Wenter in
Google Scholar
PubMed Close
,
Roland Ladurner Department of General-, Visceral-, and Transplant-Surgery, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Roland Ladurner in
Google Scholar
PubMed Close
,
Constanze Hantel Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), Zurich, Switzerland
Department of Internal Medicine III, University Hospital Carl Gustav Carus Dresden, Technische Universität Dresden, Dresden, Germany

Search for other papers by Constanze Hantel in
Google Scholar
PubMed Close
,
Martin Reincke Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Martin Reincke in
Google Scholar
PubMed Close
,
Graeme Eisenhofer Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
Department of Internal Medicine III, University Hospital Carl Gustav Carus Dresden, Technische Universität Dresden, Dresden, Germany

Search for other papers by Graeme Eisenhofer in
Google Scholar
PubMed Close
,
Ashley B Grossman Green Templeton College, University of Oxford, Oxford, UK
NET Unit, ENETS Centre of Excellence, Royal Free Hospital, London, UK

Search for other papers by Ashley B Grossman in
Google Scholar
PubMed Close
,
Karel Pacak Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

Search for other papers by Karel Pacak in
Google Scholar
PubMed Close
,
Felix Beuschlein Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany
Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), Zurich, Switzerland

Search for other papers by Felix Beuschlein in
Google Scholar
PubMed Close
,
Christoph J Auernhammer Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany

Search for other papers by Christoph J Auernhammer in
Google Scholar
PubMed Close
,
Natalia S Pellegata Institute for Diabetes and Cancer (IDC), Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany

Search for other papers by Natalia S Pellegata in
Google Scholar
PubMed Close
, and
Svenja Nölting Department of Internal Medicine IV, University Hospital, LMU Klinikum, Ludwig Maximilian University of Munich, Munich, Germany
Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), Zurich, Switzerland

Search for other papers by Svenja Nölting in
Google Scholar
PubMed Close

prospective clinical trial in PPGLs ( n   = 25) reported a response rate of 13% and a disease control rate (DCR) of 83% over 3 months (DCR 61% over 6 months); allpatients with SDHx -related disease showed a partial response or stable disease ( O’Kane et al

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-21-0355
Volume/Issue:
Volume 29: Issue 6
Restricted access