Sofia S Pereira
Sofia S Pereira
Department of Anatomy and UMIB (Unit for Multidisciplinary Biomedical Research) of ICBAS, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Department of Endocrinology, University of Porto, Porto, 4050-313, Portugal
Department of Anatomy and UMIB (Unit for Multidisciplinary Biomedical Research) of ICBAS, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Department of Endocrinology, University of Porto, Porto, 4050-313, Portugal
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Department of Anatomy and UMIB (Unit for Multidisciplinary Biomedical Research) of ICBAS, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Department of Endocrinology, University of Porto, Porto, 4050-313, Portugal
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Tiago Morais
Tiago Morais
Department of Anatomy and UMIB (Unit for Multidisciplinary Biomedical Research) of ICBAS, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Department of Endocrinology, University of Porto, Porto, 4050-313, Portugal
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Madalena M Costa
Madalena M Costa
Department of Anatomy and UMIB (Unit for Multidisciplinary Biomedical Research) of ICBAS, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Department of Endocrinology, University of Porto, Porto, 4050-313, Portugal
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Mariana P Monteiro
Mariana P Monteiro
Department of Anatomy and UMIB (Unit for Multidisciplinary Biomedical Research) of ICBAS, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Department of Endocrinology, University of Porto, Porto, 4050-313, Portugal
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Duarte Pignatelli
Duarte Pignatelli
Department of Anatomy and UMIB (Unit for Multidisciplinary Biomedical Research) of ICBAS, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Department of Endocrinology, University of Porto, Porto, 4050-313, Portugal
Department of Anatomy and UMIB (Unit for Multidisciplinary Biomedical Research) of ICBAS, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Department of Endocrinology, University of Porto, Porto, 4050-313, Portugal
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Department of Anatomy and UMIB (Unit for Multidisciplinary Biomedical Research) of ICBAS, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Department of Endocrinology, University of Porto, Porto, 4050-313, Portugal
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test the efficiency of this method. In testing for biomarkers, we performed immunohistochemical labeling of 11 different molecules, namely those involved in steroidogenesis (StAR), regulation of the cell cycle (p53, p21, MDM2, p27, and cyclin D1), cell
Elena Pardi
Elena Pardi
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Stefano Mariotti
Stefano Mariotti
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Natalia S Pellegata
Natalia S Pellegata
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Katiuscia Benfini
Katiuscia Benfini
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Simona Borsari
Simona Borsari
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Federica Saponaro
Federica Saponaro
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Liborio Torregrossa
Liborio Torregrossa
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Antonello Cappai
Antonello Cappai
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Chiara Satta
Chiara Satta
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Marco Mastinu
Marco Mastinu
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Claudio Marcocci
Claudio Marcocci
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Filomena Cetani
Filomena Cetani
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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syndrome are still to be defined. The CDKN1B gene encodes a nuclear protein named P27 (also known as KIP1), a member of the CDK inhibitors family. P27 regulates the transition of G1 phase to S phase by inhibiting the activity of CDKs and by promoting exit
E T Aristizabal Prada
E T Aristizabal Prada
Department of Internal Medicine IV, Campus Grosshadern, University-Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany
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C J Auernhammer
C J Auernhammer
Department of Internal Medicine IV, Campus Grosshadern, University-Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany
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expression, suppressed cell growth and caused cell cycle arrest because of a p21 and p27 increase and a cyclin D1 degradation in neuroendocrine gastrointestinal and pulmonary carcinoid cells in vitro ( 172 ). In addition, VPA also suppressed growth of
Louise Vølund Larsen
Louise Vølund Larsen
Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark
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Delphine Mirebeau-Prunier
Delphine Mirebeau-Prunier
Laboratoire de Biochimie et Biologie Moléculaire, CHU Angers, Université d’Angers, UMR CNRS 6015, INSERM U1083, MITOVASC, Angers, France
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Tsuneo Imai
Tsuneo Imai
Department of Breast & Endocrine Surgery, National Hospital Organization, Higashinagoya National Hospital
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Cristina Alvarez-Escola
Cristina Alvarez-Escola
Endocrinology and Nutrition Department, University Hospital ‘La Paz’, Madrid, Spain
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Kornelia Hasse-Lazar
Kornelia Hasse-Lazar
Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland
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Simona Censi
Simona Censi
Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy
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Luciana A Castroneves
Luciana A Castroneves
Department of Endocrinology, Endocrine Oncology Unit, Instituto do Cancer do Estado de São Paulo, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
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Akihiro Sakurai
Akihiro Sakurai
Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan
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Minoru Kihara
Minoru Kihara
Department of Surgery, Kuma Hospital, Kobe, Hyogo, Japan
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Kiyomi Horiuchi
Kiyomi Horiuchi
Department of Breast and Endocrine Surgery, Tokyo Women’s Medical University, Tokyo, Japan
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Véronique Dorine Barbu
Véronique Dorine Barbu
AP-HP, Sorbonne Université, Laboratoire Commun de Biologie et Génétique Moléculaires, Hôpital St Antoine & INSERM CRSA, Paris, France
Réseau TenGen, Marseille, France
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Réseau TenGen, Marseille, France
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Francoise Borson-Chazot
Francoise Borson-Chazot
Réseau TenGen, Marseille, France
Fédération d’Endocrinologie, Hospices Civils de Lyon, Université Lyon 1, France
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Fédération d’Endocrinologie, Hospices Civils de Lyon, Université Lyon 1, France
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Anne-Paule Gimenez-Roqueplo
Anne-Paule Gimenez-Roqueplo
Réseau TenGen, Marseille, France
Service de Génétique, AP-HP, Hôpital européen Georges Pompidou, Paris, France
Université de Paris, PARCC, INSERM, Paris, France
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Service de Génétique, AP-HP, Hôpital européen Georges Pompidou, Paris, France
Université de Paris, PARCC, INSERM, Paris, France
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Pascal Pigny
Pascal Pigny
Réseau TenGen, Marseille, France
Laboratoire de Biochimie et Oncologie Moléculaire, CHU Lille, Lille, France
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Laboratoire de Biochimie et Oncologie Moléculaire, CHU Lille, Lille, France
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Stephane Pinson
Stephane Pinson
Réseau TenGen, Marseille, France
Laboratoire de Génétique Moléculaire, CHU Lyon, Lyon, France
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Laboratoire de Génétique Moléculaire, CHU Lyon, Lyon, France
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Nelson Wohllk
Nelson Wohllk
Endocrine Section, Hospital del Salvador, Santiago de Chile, Department of Medicine, University of Chile, Santiago, Chile
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Charis Eng
Charis Eng
Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA
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Berna Imge Aydogan
Berna Imge Aydogan
Department of Endocrinology And Metabolic Diseases, Ankara University School of Medicine, Ankara, Turkey
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Dhananjaya Saranath
Dhananjaya Saranath
Department of Research Studies & Additional Projects, Cancer Patients Aid Association, Dr. Vithaldas Parmar Research & Medical Centre, Worli, Mumbai, India
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Sarka Dvorakova
Sarka Dvorakova
Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic
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Frederic Castinetti
Frederic Castinetti
Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France
Department of Endocrinology, Assistance Publique-Hôpitaux de Marseille (AP-HM), Hôpital de la Conception, Centre de Référence des Maladies Rares de l’hypophyse HYPO, Marseille, France
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Department of Endocrinology, Assistance Publique-Hôpitaux de Marseille (AP-HM), Hôpital de la Conception, Centre de Référence des Maladies Rares de l’hypophyse HYPO, Marseille, France
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Attila Patocs
Attila Patocs
HAS-SE Momentum Hereditary Endocrine Tumors Research Group, Semmelweis University, Budapest, Hungary
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Damijan Bergant
Damijan Bergant
Department of Surgical Oncology, Institute of Oncology, Ljubljana, Slovenia
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Thera P Links
Thera P Links
Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands
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Mariola Peczkowska
Mariola Peczkowska
Department of Hypertension, Institute of Cardiology, Warsaw, Poland
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Ana O Hoff
Ana O Hoff
Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands
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Caterina Mian
Caterina Mian
Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy
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Trisha Dwight
Trisha Dwight
Cancer Genetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Sydney, New South Wales, Australia
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Barbara Jarzab
Barbara Jarzab
Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland
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Hartmut P H Neumann
Hartmut P H Neumann
Section for Preventive Medicine, Medical Center-University of Freiburg, Faculty of Medicine, Albert Ludwigs-University of Freiburg, Freiburg, Germany
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Mercedes Robledo
Mercedes Robledo
Hereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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Shinya Uchino
Shinya Uchino
Department of Endocrine Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Oita, Japan
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Anne Barlier
Anne Barlier
Réseau TenGen, Marseille, France
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital La Conception, Marseille, France
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Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital La Conception, Marseille, France
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Christian Godballe
Christian Godballe
Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark
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Jes Sloth Mathiesen
Jes Sloth Mathiesen
Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark
Department of Clinical Research, University of Southern Denmark, Odense, Denmark
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Department of Clinical Research, University of Southern Denmark, Odense, Denmark
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Objective
Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases.
Design and methods
An international retrospective multicenter study of 1085 MEN 2A index cases. Experts from MEN 2 centers all over the world were invited to participate. A total of 19 centers in 17 different countries provided registry data of index cases followed from 1974 to 2017.
Results
Ten cases presented with PHPT as their first manifestation of MEN 2A, yielding a prevalence of 0.9% (95% CI: 0.4–1.6). 9/10 cases were diagnosed with medullary thyroid carcinoma (MTC) in relation to parathyroid surgery and 1/10 was diagnosed 15 years after parathyroid surgery. 7/9 cases with full TNM data were node-positive at MTC diagnosis.
Conclusions
Our data suggest that the prevalence of MEN 2A index cases that present with PHPT as their first manifestation is very low. The majority of index cases presenting with PHPT as first manifestation have synchronous MTC and are often node-positive. Thus, our observations suggest that not performing RET mutation analysis in patients with apparently sporadic PHPT would result in an extremely low false-negative rate, if no other MEN 2A component, specifically MTC, are found during work-up or resection of PHPT.
Hélène Singeisen
Hélène Singeisen
Department of Internal Medicine, Endocrinology, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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Mariko Melanie Renzulli
Mariko Melanie Renzulli
Institute of Radiology, Cantonal Hospital Thurgau, Frauenfeld, Switzerland
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Vojtech Pavlicek
Vojtech Pavlicek
Department of Internal Medicine, Endocrinology, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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Pascal Probst
Pascal Probst
Department of Surgery, Cantonal Hospital Thurgau, Frauenfeld, Switzerland
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Fabian Hauswirth
Fabian Hauswirth
Department of Surgery, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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Markus K Muller
Markus K Muller
Department of Surgery, Cantonal Hospital Thurgau, Frauenfeld, Switzerland
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Magdalene Adamczyk
Magdalene Adamczyk
Department of Pathology and Molecular Pathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland
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Achim Weber
Achim Weber
Department of Pathology and Molecular Pathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland
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Reto Martin Kaderli
Reto Martin Kaderli
Department of Visceral Surgery and Medicine, Bern University Hospital, University of Bern, Bern, Switzerland
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Pietro Renzulli
Pietro Renzulli
Department of Surgery, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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-dominant Autosomal-dominant Autosomal-dominant Autosomal-dominant Encoded protein Menin RET RET p27 MAX Leading tumor (prevalence %) PHPT (85%) Medullary thyroid cancer (95–100%) Medullary thyroid cancer (95–100%) PHPT (75
Zhandong Lei
Zhandong Lei
Key Laboratory of Cellular Physiology, Ministry of Education, and the Department of Physiology, Shanxi Medical University, Taiyuan, China
Department of Anatomy, Shanxi Medical University, Taiyuan, China
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Department of Anatomy, Shanxi Medical University, Taiyuan, China
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Yunfei Chen
Yunfei Chen
Key Laboratory of Cellular Physiology, Ministry of Education, and the Department of Physiology, Shanxi Medical University, Taiyuan, China
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Jin Wang
Jin Wang
Key Laboratory of Cellular Physiology, Ministry of Education, and the Department of Physiology, Shanxi Medical University, Taiyuan, China
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Yan Zhang
Yan Zhang
Key Laboratory of Cellular Physiology, Ministry of Education, and the Department of Physiology, Shanxi Medical University, Taiyuan, China
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Wenjuan Shi
Wenjuan Shi
Key Laboratory of Cellular Physiology, Ministry of Education, and the Department of Physiology, Shanxi Medical University, Taiyuan, China
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Xuejiao Wang
Xuejiao Wang
Key Laboratory of Cellular Physiology, Ministry of Education, and the Department of Physiology, Shanxi Medical University, Taiyuan, China
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Dehai Xing
Dehai Xing
Key Laboratory of Cellular Physiology, Ministry of Education, and the Department of Physiology, Shanxi Medical University, Taiyuan, China
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Dongxue Li
Dongxue Li
Key Laboratory of Cellular Physiology, Ministry of Education, and the Department of Physiology, Shanxi Medical University, Taiyuan, China
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Xiangying Jiao
Xiangying Jiao
Key Laboratory of Cellular Physiology, Ministry of Education, and the Department of Physiology, Shanxi Medical University, Taiyuan, China
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( 20 , 21 ). The function of AKT in stimulating β-cell replication may occur via the activation of cell cycle regulators, such as Cyclin D2 , Cdk4 and p27Kip1 ( 22 , 23 , 24 ). In addition, the pancreatic transcription factor Foxo1 is a
Anna Gorbacheva
Anna Gorbacheva
Endocrinology Research Center, Moscow, Russian Federation
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Anna Eremkina
Anna Eremkina
Endocrinology Research Center, Moscow, Russian Federation
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Daria Goliusova
Daria Goliusova
Endocrinology Research Center, Moscow, Russian Federation
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Julia Krupinova
Julia Krupinova
Endocrinology Research Center, Moscow, Russian Federation
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Natalia Mokrysheva
Natalia Mokrysheva
Endocrinology Research Center, Moscow, Russian Federation
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disruption of cellular functions. For instance, the expression of menin and its messenger molecules (mixed lineage leukemia (MLL), p27 and p18) in the pancreas and pituitary gland does not differ in MEN1+/− and WT mice ( 19 ). At the same time, in 2001 it
Maria Mizamtsidi
Maria Mizamtsidi
Department of Endocrinology, Diabetes and Metabolism, Hellenic Red Cross Hospital, Athens, Greece
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Constantinos Nastos
Constantinos Nastos
Second Department of Surgery, Endocrine Surgery Unit, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece
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George Mastorakos
George Mastorakos
Unit of Endocrinology, Diabetes and Metabolism, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece
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Roberto Dina
Roberto Dina
Department of Pathology, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK
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Ioannis Vassiliou
Ioannis Vassiliou
Second Department of Surgery, Endocrine Surgery Unit, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece
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Maria Gazouli
Maria Gazouli
Department of Basic Medical Sciences, Laboratory of Biology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece
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Fausto Palazzo
Fausto Palazzo
Department of Thyroid and Endocrine Surgery, Imperial College London, London, UK
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reduction of P27 and inhibition of cyclin and CDK complexes, as well as a loss of control of cell cycle progression. Inactivating somatic and germline mutations of CDC73 are frequently identified in patients with parathyroid carcinoma. CDKN1B has been
Dirk-Jan van Beek
Dirk-Jan van Beek
Department of Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
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Rachel S van Leeuwaarde
Rachel S van Leeuwaarde
Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
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Carolina R C Pieterman
Carolina R C Pieterman
Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
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Menno R Vriens
Menno R Vriens
Department of Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
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Gerlof D Valk
Gerlof D Valk
Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
Parelsnoer Institute, Utrecht, The Netherlands
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Parelsnoer Institute, Utrecht, The Netherlands
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the DutchMEN Study Group
the DutchMEN Study Group
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Prognostic factors Subsequent questions What is the role of role p27Kip1 and p18Ink4c in pancreatic neuroendocrine tumor development in MEN1 patients? pNET Prognostic factors Subsequent questions What are promoter methylation profiles in
Kate E Lines
Kate E Lines
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK
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Mahsa Javid
Mahsa Javid
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK
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Anita A C Reed
Anita A C Reed
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK
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Gerard V Walls
Gerard V Walls
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK
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Mark Stevenson
Mark Stevenson
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK
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Michelle Simon
Michelle Simon
MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, UK
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Kreepa G Kooblall
Kreepa G Kooblall
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK
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Sian E Piret
Sian E Piret
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK
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Paul T Christie
Paul T Christie
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK
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Paul J Newey
Paul J Newey
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK
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Ann-Marie Mallon
Ann-Marie Mallon
MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, UK
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Rajesh V Thakker
Rajesh V Thakker
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK
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.326T>G) and tumour multiplicity in MEN1 patients has been reported ( 41 ), although we did not observe any variants in Cdkn1b (encoding p27 kip1 ) in our WGS data, we did observe variants in the cell cycle regulator, Ccne2 , that is regulated by p27
