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Andrea Perra Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy

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Michelina Plateroti Cancer Research Center of Lyon INSERM U1052, CNRS UMR5286, Université de Lyon, Université Lyon 1, Centre Léon Bérard, Département de la Recherche, Lyon, France

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Amedeo Columbano Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy

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. (2010) Hepatocellular carcinoma Rat ↓ mRNA levels (qRT-PCR) Frau et al . (2015) Hepatocellular carcinoma Rat ↓ protein levels (WB) Frau et al . (2015) TRs alterations and HCC Hepatocellular carcinoma (HCC) is

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Hidewaki Nakagawa Laboratory for Genome Sequencing Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan

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). In particular, Asian populations have a substantially lower incidence rate than Caucasians or African Americans, indicating the contribution of different genetic backgrounds to PC susceptibility ( Gronberg 2003 , Schaid 2004 , Nakagawa et al . 2012

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A Garolla
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A Ferlin
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C Vinanzi
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A Roverato
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G Sotti
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W Artibani
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C Foresta
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identified and probably other TGCT putative genes exist. Recently, other suggestions of a genetic basis for TC ( Chemes et al. 2003 , Skakkebæk et al. 2003 ) have been made; however, specific genetic alterations including genetic susceptibility to

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Trisha Dwight Cancer Genetics, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia
The University of Sydney, Sydney, New South Wales, Australia

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Aidan Flynn The Finsen Laboratory, Rigshospitalet, Faculty of Health Sciences, University of Copenhagen, Copenhagen N, Denmark
Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Copenhagen N, Denmark

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Kaushalya Amarasinghe The Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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Diana E Benn Cancer Genetics, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia
The University of Sydney, Sydney, New South Wales, Australia

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Richard Lupat The Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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Jason Li The Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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Daniel L Cameron The Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia

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Annette Hogg The Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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Shiva Balachander The Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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Ida L M Candiloro Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia
The Department of Pathology, University of Melbourne, Parkville, Victoria, Australia

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Stephen Q Wong The Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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Bruce G Robinson Cancer Genetics, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia
The University of Sydney, Sydney, New South Wales, Australia

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Anthony T Papenfuss The Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia
The Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia
The Department of Mathematics and Statistics, University of Melbourne, Parkville, Victoria, Australia

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Anthony J Gill The University of Sydney, Sydney, New South Wales, Australia
Cancer Diagnosis and Pathology Group, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia

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Alexander Dobrovic Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia
The Department of Pathology, University of Melbourne, Parkville, Victoria, Australia
School of Cancer Medicine, La Trobe University, Bundoora, Victoria, Australia

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Rodney J Hicks The Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
The Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia

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Roderick J Clifton-Bligh Cancer Genetics, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia
The University of Sydney, Sydney, New South Wales, Australia

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Richard W Tothill The Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
The Department of Pathology, University of Melbourne, Parkville, Victoria, Australia
The Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia

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the adrenal medulla. Although rare, they often occur as part of hereditary endocrine tumor syndromes and their study has been richly rewarding for identifying genetic events that drive tumorigenesis ( Castro-Vega et al . 2015 a ). Metastatic disease

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T Vandamme Center of Oncological Research (CORE), University of Antwerp, Antwerp, Belgium
Section of Endocrinology, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands

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M Beyens Center of Oncological Research (CORE), University of Antwerp, Antwerp, Belgium

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G Boons Center of Oncological Research (CORE), University of Antwerp, Antwerp, Belgium

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A Schepers Center of Medical Genetics, University of Antwerp, Antwerp, Belgium

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K Kamp Section of Endocrinology, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands

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K Biermann Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands

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P Pauwels Department of Pathology, University of Antwerp, Antwerp, Belgium

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W W De Herder Section of Endocrinology, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands

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L J Hofland Section of Endocrinology, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands

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M Peeters Center of Oncological Research (CORE), University of Antwerp, Antwerp, Belgium

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G Van Camp Center of Medical Genetics, University of Antwerp, Antwerp, Belgium

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K Op de Beeck Center of Oncological Research (CORE), University of Antwerp, Antwerp, Belgium

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reached). Genetic alterations in pNENs Targeted resequencing of the selected HaloPlex enrichment 20-gene panel (see Materials and methods) resulted in a total of 416,711,794 reads, passing quality filtering, across 38 tumor samples and three normal

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Rachel Pimenta Riechelmann Clinical Oncology Department, A.C. Camargo Cancer Center, São Paulo, Brazil

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Mauro Daniel Spina Donadio Clinical Oncology Department, A.C. Camargo Cancer Center, São Paulo, Brazil

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Victor Hugo Fonseca de Jesus Clinical Oncology Department, A.C. Camargo Cancer Center, São Paulo, Brazil

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Nathalia de Angelis de Carvalho Clinical and Functional Genomics Group, International Research Center/CIPE, A.C. Camargo Cancer Center, São Paulo, Brazil

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Karina Miranda Santiago Clinical and Functional Genomics Group, International Research Center/CIPE, A.C. Camargo Cancer Center, São Paulo, Brazil

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Milton J Barros Clinical Oncology Department, A.C. Camargo Cancer Center, São Paulo, Brazil

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Laura Lopes Department of Pathology, A.C. Camargo Cancer Center, São Paulo, Brazil

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Gabriel Oliveira dos Santos Department of Pathology, A.C. Camargo Cancer Center, São Paulo, Brazil

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Maria Nirvana Formiga Clinical Oncology Department, A.C. Camargo Cancer Center, São Paulo, Brazil
Department of Oncogenetics, A.C. Camargo Cancer Center, São Paulo, Brazil

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Dirce Maria Carraro Clinical and Functional Genomics Group, International Research Center/CIPE, A.C. Camargo Cancer Center, São Paulo, Brazil
National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation (INCITO-INOTE), São Paulo, Brazil

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Giovana Tardin Torrezan Clinical and Functional Genomics Group, International Research Center/CIPE, A.C. Camargo Cancer Center, São Paulo, Brazil
National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation (INCITO-INOTE), São Paulo, Brazil

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non-Hodgkin lymphoma ( Neklason et al. 2016 ). While the carcinogenic mechanisms involved in NENs remain obscure, these studies point to inherited genetic alterations underlying NEN development. However, research performed in NENs beyond well

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Bruno Ragazzon Institut Cochin, Inserm, Department of Endocrinology, Université Paris Descartes, CNRS (UMR 8104), 75014 Paris, France
Institut Cochin, Inserm, Department of Endocrinology, Université Paris Descartes, CNRS (UMR 8104), 75014 Paris, France

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Guillaume Assié Institut Cochin, Inserm, Department of Endocrinology, Université Paris Descartes, CNRS (UMR 8104), 75014 Paris, France
Institut Cochin, Inserm, Department of Endocrinology, Université Paris Descartes, CNRS (UMR 8104), 75014 Paris, France
Institut Cochin, Inserm, Department of Endocrinology, Université Paris Descartes, CNRS (UMR 8104), 75014 Paris, France

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Jérôme Bertherat Institut Cochin, Inserm, Department of Endocrinology, Université Paris Descartes, CNRS (UMR 8104), 75014 Paris, France
Institut Cochin, Inserm, Department of Endocrinology, Université Paris Descartes, CNRS (UMR 8104), 75014 Paris, France
Institut Cochin, Inserm, Department of Endocrinology, Université Paris Descartes, CNRS (UMR 8104), 75014 Paris, France

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from the paternal allele, and H19 and CDKN1C are expressed from the maternal allele. In BWS, various genetic and epigenetic alterations are associated with the overexpression of IGF2 , as well as with the low expression of CDKN1C and H19 ( Lam

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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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Carla Colombo Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

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Marina Muzza Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Gabriele Pogliaghi Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Sonia Palazzo Pathology Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Guia Vannucchi Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Leonardo Vicentini Endocrine Surgery Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Luca Persani Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Giacomo Gazzano Pathology Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Laura Fugazzola Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

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alterations found in TC (reviewed in Muzza et al. 2020 ). We recently developed a PTC-MA assay that able to evaluate in an extremely cost-effective manner (300 euro/sample), a total of 24 genetic alterations including point mutations and fusions frequently

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Y M H Jonkers
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S M H Claessen
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A Perren
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S Schmid
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P Komminoth
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A A Verhofstad
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L J Hofland
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R R de Krijger
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P J Slootweg
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F C S Ramaekers
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E-J M Speel
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alterations, always ≥3 copies of the 9q34-specific region were observed including two cases with an amplification (patients 10 and 15). Four cases showed tumor subpopulations with aberrant copy numbers of chromosome 9 targets indicating genetic heterogeneity

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