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Andreas Venizelos K.G. Jebsen Center for Genome-Directed Cancer Therapy, Department of Clinical Science, University of Bergen, Bergen, Norway
Department of Oncology, Haukeland University Hospital, Bergen, Norway

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Hege Elvebakken Department of Oncology, Ålesund Hospital, Møre og Romsdal Hospital Trust, Ålesund, Norway
Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway

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Aurel Perren Institute of Pathology, University of Bern, Bern, Switzerland

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Oleksii Nikolaienko K.G. Jebsen Center for Genome-Directed Cancer Therapy, Department of Clinical Science, University of Bergen, Bergen, Norway
Department of Oncology, Haukeland University Hospital, Bergen, Norway

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Wei Deng K.G. Jebsen Center for Genome-Directed Cancer Therapy, Department of Clinical Science, University of Bergen, Bergen, Norway
Department of Oncology, Haukeland University Hospital, Bergen, Norway

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Inger Marie B Lothe Department of Pathology, Oslo University Hospital, Oslo, Norway

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Anne Couvelard Department of Pathology, Université de Paris, Bichat Hospital, AP-HP, Paris, France

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Geir Olav Hjortland Department of Oncology, Oslo University Hospital, Oslo, Norway

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Anna Sundlöv Departmentt of Oncology, Skåne University Hospital, Lund, Sweden
Department of Medical Radiation Physics, Lund University, Lund, Sweden

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Johanna Svensson Department of Oncology, Sahlgrenska University Hospital, Gothenburg, Sweden

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Harrish Garresori Department of Oncology, Stavanger University Hospital, Stavanger, Norway

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Christian Kersten Department of Research, Hospital of Southern Norway, Kristiansand, Norway

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Eva Hofsli Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway
Department of Oncology, St.Olavs Hospital, Trondheim, Norway

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Sönke Detlefsen Department of Pathology, Odense University Hospital, Odense, Denmark
Department of Clinical Medicine, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark

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Merete Krogh Department of Oncology, Odense University Hospital, Odense, Denmark

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Halfdan Sorbye Department of Oncology, Haukeland University Hospital, Bergen, Norway
Department of Clinical Science, University of Bergen, Bergen, Norway

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Stian Knappskog K.G. Jebsen Center for Genome-Directed Cancer Therapy, Department of Clinical Science, University of Bergen, Bergen, Norway
Department of Oncology, Haukeland University Hospital, Bergen, Norway

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possible new treatment strategies. For this purpose, we applied massive parallel sequencing (NGS) with subsequent assessments of genetic alterations, in a large biobank of HG GEP-NEN samples. Patients and samples The samples were from patients

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M Xing Division of Endocrinology and Metabolism, Department of Medicine, Johns Hopkins University School of Medicine, 1830 E. Monument St/Suite 333 Baltimore, MD 21287, USA

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alterations, some of which are seen only in this cancer. The classical oncogenic genetic alterations commonly seen in thyroid cancer include Ras mutations ( Fagin 2002 , Bongarzone & Pierotti 2003 ), RET/PTC rearrangements ( Nikiforov 2002 , Santoro et

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Vincenzo Marotta IOS & COLEMAN Srl, Naples, Italy

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Concetta Sciammarella IOS & COLEMAN Srl, Naples, Italy

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Annamaria Colao Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy

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Antongiulio Faggiano Thyroid and Parathyroid Surgery Unit, Istituto Nazionale per lo Studio e la Cura dei Tumori-IRCCS “Fondazione G. Pascale”, Naples, Italy

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-called molecular prognostication into ‘real-life’ clinical practice is still yet to be performed. In this review, we will analyse the current knowledge about prognostic significance and the actual role of the most common and best studied genetic alterations related

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Carles Zafon Diabetes and Metabolism Research Unit (VHIR) and Department of Endocrinology, University Hospital Vall d’Hebron and Autonomous University of Barcelona, Barcelona, Spain
Consortium for the Study of Thyroid Cancer (CECaT), Catalonia, Spain

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Joan Gil Program of Predictive and Personalized Medicine of Cancer, Germans Trias i Pujol Research Institute (PMPPC-IGTP), Barcelona, Spain

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Beatriz Pérez-González Program of Predictive and Personalized Medicine of Cancer, Germans Trias i Pujol Research Institute (PMPPC-IGTP), Barcelona, Spain

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Mireia Jordà Consortium for the Study of Thyroid Cancer (CECaT), Catalonia, Spain
Program of Predictive and Personalized Medicine of Cancer, Germans Trias i Pujol Research Institute (PMPPC-IGTP), Barcelona, Spain

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/AKT pathway is involved in the progression of FTC. Recently, the genetic landscape of some thyroid cancer histotypes has been largely deciphered ( Cancer Genome Atlas Research Network 2014 , Kunstman et al. 2015 ), and some of these genetic alterations have

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Yong Lin
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Xiaofei Jiang
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Ye Shen Department of Laboratory Medicine, Institute of Endocrinology and Diabetologia, Division of Endocrinology and Metabolism, Huashan Hospital, Shanghai Medical College, Fudan University, 12 Central Urumqi Road, Shanghai 200040, People's Republic of China

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Min Li
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Huili Ma
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Mingzhao Xing Department of Laboratory Medicine, Institute of Endocrinology and Diabetologia, Division of Endocrinology and Metabolism, Huashan Hospital, Shanghai Medical College, Fudan University, 12 Central Urumqi Road, Shanghai 200040, People's Republic of China

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Yuan Lu
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2004 ). However, genetic alterations, which are the driving force for human tumorigenesis and pathogenesis, have in general been unknown in pituitary tumors. Given the frequent mutations and amplifications of the PIK3CA gene in many human tumors and

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Cristina Romei Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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Raffaele Ciampi Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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Pinuccia Faviana Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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Laura Agate Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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Eleonora Molinaro Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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Valeria Bottici Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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Fulvio Basolo Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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Paolo Miccoli Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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Furio Pacini Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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Aldo Pinchera Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy
Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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Rossella Elisei Departments of, Endocrinology and Metabolism, Oncology, Surgery, Department of Internal Medicine, AMBISEN Center, University of Pisa, 56100 Pisa, Italy

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associated with the more aggressive phenotype, no clear correlation between RET/PTC rearrangements and a better or worse prognosis has been documented ( Basolo et al . 2001 ). The V600E mutation is the only BRAF genetic alteration (BRAF V600E ) consistently

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M Lacroix Laboratoire Jean-Claude Heuson de Cancérologie Mammaire, Institut Jules Bordet, Université Libre de Bruxelles, 127 boulevard de Waterloo, B-1000 Bruxelles, Brussels, Belgium

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R-A Toillon Laboratoire Jean-Claude Heuson de Cancérologie Mammaire, Institut Jules Bordet, Université Libre de Bruxelles, 127 boulevard de Waterloo, B-1000 Bruxelles, Brussels, Belgium

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G Leclercq Laboratoire Jean-Claude Heuson de Cancérologie Mammaire, Institut Jules Bordet, Université Libre de Bruxelles, 127 boulevard de Waterloo, B-1000 Bruxelles, Brussels, Belgium

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are expected to often be significantly different from those observed in BCCs in situ . In fact, a number of recent data—of pathological, molecular and genetic nature—have revealed that despite increasing genetic alteration, the ‘portrait’ of

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Maria Rosaria Rusciano Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Marcella Salzano Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Sara Monaco Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Maria Rosaria Sapio Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Maddalena Illario Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Valentina De Falco Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Massimo Santoro Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Pietro Campiglia Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Lucio Pastore Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy
Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Gianfranco Fenzi Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Guido Rossi Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy
Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Mario Vitale Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy
Department of Biologia e Patologia Cellulare e Molecolare, Department of Endocrinologia ed Oncologia Molecolare e Clinica, Department of Scienze Farmaceutiche, Department of Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, CISI, Facoltà di Medicina, Università Federico II, Naples, Italy

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Introduction Papillary thyroid carcinoma (PTC) is the most common thyroid cancer, accounting for more than 80% of thyroid malignancies ( Sherman 2003 ). It frequently carries genetic alterations, all resulting in the inappropriate activation

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Yuanliang Li Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

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Yiying Guo Department of Integrative Oncology, China-Japan Friendship Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

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Zixuan Cheng Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

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Chao Tian Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

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Yingying Chen Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

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Ruao Chen Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

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Fuhuan Yu Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

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Yanfen Shi Department of Pathology, China-Japan Friendship Hospital, Beijing, China

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Fei Su Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing, China

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Shuhua Zhao Department of Biological Information Research, HaploX Biotechnology Co., Ltd, Shenzhen, Guangdong, China

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Zhizheng Wang Academic Department, HaploX Biotechnology, Co., Ltd, Shenzhen, Guangdong, China

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Jie Luo Department of Pathology, China-Japan Friendship Hospital, Beijing, China

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Huangying Tan Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China
Department of Integrative Oncology, China-Japan Friendship Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China
Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing, China

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number deletion. The darker the color, the higher the frequency. A full-colour version of this figure can be found at https://doi.org/10.1530/ERC-22-0257 . Genetic alterations and survival To explore the potential correlation of gene

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Maria Isabel C Vieira Cordioli Genetic Bases of Thyroid Tumors Laboratory, Division of Endocrinology, Division of Genetics, Department of Morphology and Genetics and Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Pedro de Toledo 669, 11 andar, 04039‐032, São Paulo, SP, Brazil

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Lais Moraes Genetic Bases of Thyroid Tumors Laboratory, Division of Endocrinology, Division of Genetics, Department of Morphology and Genetics and Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Pedro de Toledo 669, 11 andar, 04039‐032, São Paulo, SP, Brazil

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Adriano Namo Cury Genetic Bases of Thyroid Tumors Laboratory, Division of Endocrinology, Division of Genetics, Department of Morphology and Genetics and Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Pedro de Toledo 669, 11 andar, 04039‐032, São Paulo, SP, Brazil

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Janete M Cerutti Genetic Bases of Thyroid Tumors Laboratory, Division of Endocrinology, Division of Genetics, Department of Morphology and Genetics and Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Pedro de Toledo 669, 11 andar, 04039‐032, São Paulo, SP, Brazil

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) that reduced the so-called ‘dark matter’ of the PTC. The large collection of genetic alterations, combined with a comprehensive transcriptomic and proteomic analysis, revealed fundamental biological differences between PTCs. This increased knowledge

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