Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas

Author

LI YAO¹ ; SCHIAVI, Francesca² ; MORI, Luigi¹¹ ; GIACCHE, Mara¹² ; MENDOLA, Antonella¹³ ; TASCHIN, Elisa¹⁴ ; BOARETTO, Francesca¹⁵ ; LOLI, Paola¹⁶ ; LACOBONE, Maurizio¹⁷ ; ROSSI, Gian-Paolo¹⁸ ; BIONDI, Bernadette¹⁹ ; VIANA LIMA-JUNIOR, José²⁰ ; CASCON, Alberto³ ; KATER, Claudio E²¹ ; BEX, Marie²² ; VIKKULA, Miikka²³ ; GROSSMAN, Ashley B¹ ; GRUBER, Stephen B³ ; BARONTINI, Marta¹ ; PERSU, Alexandre¹ ; CASTELLANO, Maurizio¹ ; TOLEDO, Sergio P. A¹ ; MAHER, Eamonn R³ ; YUEJUAN QIN⁴ ; MANNELLI, Massimo¹ ; OPOCHER, Giuseppe³ ; ROBLEDO, Mercedes¹ ; DAHIA, Patricia L. M¹ ; INGLADA-PEREZ, Lucia⁵ ; KING, Elizabeth E⁶ ; TOLEDO, Rodrigo A⁷ ; ERCOLINO, Tonino⁸ ; RAPIZZI, Elena⁹ ; RICKETTS, Christopher J¹⁰
[1] Division of Hematology and Medical Oncology, University of Texas Health Science Center at San Antonio, San Antonio, United States
[2] Division of Endocrinology, University of Texas Health Science Center at San Antonio, San Antonio, United States
[3] Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio, San Antonio, United States
[4] Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, United States
[5] Familial Cancer Clinic, Veneto Institute of Oncology, University of Padua, Padua, Italy
[6] Department of Surgical and Gastroenterological Science, University of Padua, Padua, Italy
[7] Department of Internal Medicine 4, University of Padua, Padua, Italy
[8] Department of Medical and Surgical Science, University of Padua, Padua, Italy
[9] Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, and Instituto de Salud Carlos III Center for Biomedical Research on Rare Diseases, Madrid, Spain
[10] Endocrine Genetics Unit (LIM 25), Division of Endocrinology, Department of Medicine, University of São Paulo School of Medicine, Spain
[11] Division of Endocrinology, Department of Medicine, Federal University of São Paulo, São Paulo, Brazil
[12] Department of Clinical Pathophysiology, University of Florence, Italy
[13] Istituto Toscano Tumori, Florence, Italy
[14] Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences and Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham, United Kingdom
[15] Endocrine and Metabolic Unit, Clinica Medica, University of Brescia, Brescia, Italy
[16] Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium
[17] Division of Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
[18] Department of Endocrinology, Ospedale Niguarda Ca'Granda, Milan, Italy
[19] Department of Clinical and Molecular Endocrinology and Oncology, University of Naples Federico II, Naples, Italy
[20] Department of Endocrinology, University Hospital Leuven, Leuven, Belgium
[21] Centre for Endocrinology, St Bartholomew's Hospital, Barts and the London School of Medicine, London, United Kingdom
[22] Division of Molecular Medicine and Genetics, University of Michigan, Ann Arbor, United States
[23] Centro de investigaciones Endocrinológicas, Hospital de Niños Dr Ricardo Gutiérrez, Buenos Aires, Argentina

Source

JAMA, the journal of the American Medical Association. 2010, Vol 304, Num 23, pp 2611-2619, 9 p ; ref : 22 ref

ISSN

0098-7484

Scientific domain

General medicine general surgery

Publisher

American Medical Association, Chicago, IL

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Epidémiologie Gène Génétique Mutation Médecine Paragangliome Phéochromocytome Prévalence Endocrinopathie Pathologie du système nerveux autonome Pathologie du système nerveux Tumeur sécrétante

Keyword (en)

Epidemiology Gene Genetics Mutation Medicine Paraganglioma Pheochromocytoma Prevalence Endocrinopathy Diseases of the autonomic nervous system Nervous system diseases Secretory tumor

Keyword (es)

Epidemiología Gen Genética Mutación Medicina Paraganglioma Feocromocitoma Prevalencia Endocrinopatía Sistema nervioso autónomo patología Sistema nervioso patología Tumor secretante

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B01 General aspects

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21B Adrenals. Adrenal axis. Renin-angiotensin system (diseases) / 002B21B01 Non tumoral diseases. Target tissue resistance. Benign neoplasms

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B30 Public health. Hygiene-occupational medicine / 002B30A Public health. Hygiene / 002B30A01 General aspects / 002B30A01A Epidemiology

Discipline

Endocrinopathies Generalities in medical sciences Public health. Hygiene-occupational medicine

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

23503963

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS