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Anne Jouinot Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Juliane Lippert Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany

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Martin Fassnacht Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
Comprehensive Cancer Center Mainfranken, University of Wuerzburg, Wuerzburg, Germany

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Bruno de La Villeon Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Amandine Septier Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Mario Neou Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Karine Perlemoine Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Silke Appenzeller Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany

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Mathilde Sibony Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Pathology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Sébastien Gaujoux Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Digestive and Endocrine Surgery, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Bertrand Dousset Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Digestive and Endocrine Surgery, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Rossella Libe Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Lionel Groussin Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Cristina L Ronchi Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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Guillaume Assié Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Jérôme Bertherat Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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mutations, chromosome alteration and DNA methylation profile, or at the RNA level, including transcriptome and targeted gene expression profiles. Intratumor heterogeneity of somatic mutations has been reported in many cancer types ( 12 , 13 , 14 ). In a

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0228
Volume/Issue:
Volume 9: Issue 7
Open access
Sara Lomelino Pinheiro Serviço de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Ana Saramago Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Branca Maria Cavaco Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Carmo Martins Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Valeriano Leite Serviço de Endocrinologia e Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Tiago Nunes da Silva Serviço de Endocrinologia e Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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genetic alterations associated with sporadic PC are inactivating somatic mutations of the CDC73/HRPT2 gene. Sporadic PC may also be associated with other abnormalities, including p53 and retinoblastoma gene mutations. Alterations of the PI3K

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-22-0479
Volume/Issue:
Volume 12: Issue 9
Open access
Eric Seidel Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Nephrology and Medical Intensive Care, BCRT – Berlin Institute of Health Center for Regenerative Therapies, Berlin, Germany
Berlin Institute of Health (BIH), Berlin, Germany
Department of Nephrology, School of Medicine, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany

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Gudrun Walenda Department of Nephrology, School of Medicine, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany

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Clemens Messerschmidt Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany

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Benedikt Obermayer Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany

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Mirko Peitzsch Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Paal Wallace Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Rohini Bahethi Department of Nephrology, School of Medicine, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany

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Taekyeong Yoo Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea

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Murim Choi Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea

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Petra Schrade Charité – Universitaetsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institut für Vegetative Anatomie, Berlin, Germany

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Sebastian Bachmann Charité – Universitaetsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institut für Vegetative Anatomie, Berlin, Germany

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Gerhard Liebisch Institute of Clinical Chemistry and Laboratory Medicine, Regensburg University Hospital, Regensburg, Germany

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Graeme Eisenhofer Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Dieter Beule Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany
Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany

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Ute I Scholl Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Nephrology and Medical Intensive Care, BCRT – Berlin Institute of Health Center for Regenerative Therapies, Berlin, Germany
Berlin Institute of Health (BIH), Berlin, Germany
Department of Nephrology, School of Medicine, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany

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DW Lee S Kim Y Kim TM . Passage-dependent accumulation of somatic mutations in mesenchymal stromal cells during in vitro culture revealed by whole genome sequencing . Scientific Reports 2017 14508 . ( https://doi.org/10.1038/s41598

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0510
Volume/Issue:
Volume 9: Issue 2
Open access
Ana P Estrada-Flórez Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA
Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Tolima, Colombia
Facultad de Ciencias para la Salud, Universidad de Caldas, Manizales, Caldas, Colombia

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Mabel E Bohórquez Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Tolima, Colombia

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Alejandro Vélez Dinamica IPS, Medellín, Antioquia, Colombia
Hospital Pablo Tobón Uribe, Medellín, Antioquia, Colombia

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Carlos S Duque Hospital Pablo Tobón Uribe, Medellín, Antioquia, Colombia

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Jorge H Donado Hospital Pablo Tobón Uribe, Medellín, Antioquia, Colombia

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Gilbert Mateus Hospital Federico Lleras Acosta, Ibagué, Tolima, Colombia

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Cesar Panqueba-Tarazona Universidad Surcolombiana, Neiva, Huila, Colombia

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Guadalupe Polanco-Echeverry Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

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Ruta Sahasrabudhe Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

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Magdalena Echeverry Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Tolima, Colombia

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Luis G Carvajal-Carmona Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA
Dinamica IPS, Medellín, Antioquia, Colombia
University of California Davis Comprehensive Cancer Center, Sacramento, California, USA
Fundación de Genética y Genómica, Medellín, Antioquia, Colombia

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Papillary thyroid cancer (PTC) is the second most commonly diagnosed malignancy in U.S. Latinas and in Colombian women. Studies in non-Latinos indicate that BRAF and TERT mutations are PTC prognostic markers. This study aimed to determine the prevalence and clinical associations of BRAF and TERT mutations in PTC Latino patients from Colombia. We analyzed mutations of BRAF (V600E) and TERT promoter (C228T, C250T) in tumor DNA from 141 patients (75 with classical variant PTC, CVPTC; 66 with follicular variant PTC, FVPTC) recruited through a multi-center study. Associations between mutations and clinical variables were evaluated with Fisher exact tests. Survival was evaluated with Kaplan–Meier plots. Double-mutant tumors (BRAF+/TERT+, n = 14 patients) were more common in CVPTC (P = 0.02). Relative to patients without mutations (n = 48), double mutations were more common in patients with large tumors (P = 0.03), lymph node metastasis (P = 0.01), extra-thyroid extension (P = 0.03), and advanced stage (P = 6.0 × 10−5). In older patients, TERT mutations were more frequent (mean age 51 years vs 45 years for wild type TERT, P = 0.04) and survival was lower (HR = 1.20; P = 0.017); however, given the small sample size, the decrease in survival was not statically significant between genotypes. Comparisons with published data in US whites revealed that Colombian patients had a higher prevalence of severe pathological features and of double-mutant tumors (10 vs 6%, P = 0.001). Mutations in both oncogenes show prognostic associations in Latinos from Colombia. Our study is important to advance Latino PTC precision medicine and replicates previous prognostic associations between BRAF and TERT in this population.

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0376
Volume/Issue:
Volume 8: Issue 9
Open access
Cristina Romei Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Teresa Ramone Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Chiara Mulè Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Alessandro Prete Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Virginia Cappagli Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Loredana Lorusso Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Liborio Torregrossa Department of Surgical, Medical, Molecular Pathology, University of Pisa, Pisa, Italy

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Fulvio Basolo Department of Surgical, Medical, Molecular Pathology, University of Pisa, Pisa, Italy

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Raffaele Ciampi Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Rossella Elisei Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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addition to somatic RET mutations, sporadic MTC shows the presence of somatic RAS mutations that have been mostly reported in RET negative tumours and are almost always mutually exclusive with RET mutations ( 7 , 8 ). RET somatic mutations have

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0589
Volume/Issue:
Volume 10: Issue 2
Open access
Benjamin G Challis Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK
Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK
IMED Biotech Unit, Clinical Discovery Unit, AstraZeneca, UK

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Andrew S Powlson Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK
Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Ruth T Casey Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Carla Pearson Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Brian Y Lam Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Marcella Ma Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Deborah Pitfield Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Giles S H Yeo Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Edmund Godfrey Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK

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Heok K Cheow Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK
Department of Nuclear Medicine, Addenbrooke’s Hospital, Cambridge, UK

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V Krishna Chatterjee Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK
Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Nicholas R Carroll Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK

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Ashley Shaw Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK

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John R Buscombe Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK
Department of Nuclear Medicine, Addenbrooke’s Hospital, Cambridge, UK

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Helen L Simpson Department of Diabetes and Endocrinology, UCLH NHS Foundation Trust, London, UK

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, and associated with multiple endocrine neoplasia (MEN)-1 ( 1 ). Although single-copy deletion and somatic mutations in Menin have been identified in some sporadic insulinoma, it is now recognised that a recurrent somatic mutation in the transcription

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0076
Volume/Issue:
Volume 6: Issue 7
Open access
Joakim Crona Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Alberto Delgado Verdugo Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Dan Granberg Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Staffan Welin Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Peter Stålberg Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Per Hellman Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Peyman Björklund Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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of underlying molecular mechanisms in the tumorigenesis of these diseases has increased dramatically during the last decade (1) . Up to 80% of all PCC and PGL could have either germline or somatic mutations (2, 3, 4) in one of the 11 hitherto known

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0009
Volume/Issue:
Volume 2: Issue 2
Open access
June Young Choi Department of Surgery, Seoul National University Bundang Hospital, Seongnam-si, Korea

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Jin Wook Yi Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

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Jun Hyup Lee Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

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Ra-Yeong Song Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

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Hyeongwon Yu Department of Surgery, Seoul National University Bundang Hospital, Seongnam-si, Korea

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Hyungju Kwon Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

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Young Jun Chai Department of Surgery, Seoul National University Boramae Hospital, Seoul, Korea

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Su-jin Kim Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

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Kyu Eun Lee Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

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, somatic mutations and gene expression data derived from RNA sequencing. Pathologic data were re-evaluated using scanned images of the paper-written pathologic documents provided by TCGA-associated hospitals. PTC subtype classification and MACIS scores were

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0001
Volume/Issue:
Volume 6: Issue 3
Open access
Thomas Crezee Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands
Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, The Netherlands

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Mirela Petrulea Department of Endocrinology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

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Doina Piciu Department of Endocrinology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
Division of Endocrinology, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands

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Martin Jaeger Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, The Netherlands
Department of Nuclear Medicine and Endocrine Tumors, Institute of Oncology ‘Prof. Dr. Ion Chiricuta’, Cluj-Napoca, Romania

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Jan W A Smit Division of Endocrinology, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands

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Theo S Plantinga Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands
Department of Nuclear Medicine and Endocrine Tumors, Institute of Oncology ‘Prof. Dr. Ion Chiricuta’, Cluj-Napoca, Romania

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Carmen E Georgescu Department of Endocrinology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
Endocrinology Clinic, Cluj County Emergency Hospital, Cluj-Napoca, Romania

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Romana Netea-Maier Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, The Netherlands
Department of Nuclear Medicine and Endocrine Tumors, Institute of Oncology ‘Prof. Dr. Ion Chiricuta’, Cluj-Napoca, Romania

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, leading to activation of downstream driving protein synthesis, proliferation and invasion of NMTC ( 5 , 8 , 25 , 26 ). Although somatic mutations have been identified at low frequencies, the role of germline variants in genes encoding PI3K, Akt and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0311
Volume/Issue:
Volume 9: Issue 11
Open access
Catherine Cardot Bauters CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France

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Emmanuelle Leteurtre Univ. Lille, Inserm, CHU Lille, UMR-S 1277-CANTHER, Cancer Heterogeneity, Plasticity & Resistance to Therapies, Lille, France

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Bruno Carnaille CHU Lille, Service de Chirurgie Endocrine, Hôpital Claude Huriez, Lille, France

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Christine Do Cao CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France

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Stéphanie Espiard CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France

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Malo Penven CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Evelyne Destailleur CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Isabelle Szuster CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Tonio Lovecchio CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Julie Leclerc Univ. Lille, Inserm, CHU Lille, UMR-S 1277-CANTHER, Cancer Heterogeneity, Plasticity & Resistance to Therapies, Lille, France
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Fredéric Frénois Univ. Lille, CHU Lille, EA-7364 RADEME, Faculté de Médecine, Lille, France

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Emmanuel Esquivel Dept Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA

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Patricia L M Dahia Dept Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA

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Emilie Ait-Yahya CHU Lille, Institut de Biochimie & Biologie Moléculaire, Centre de Biologie Pathologie Génétique, Lille, France

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Michel Crépin CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Pascal Pigny CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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from the left PCC of the proband. We further examined the DNA from the three separate fragments from the left PCC to search for additional somatic mutations in 48 cancer genes using NGS. The three fragments displayed similar variant allele frequencies

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0460
Volume/Issue:
Volume 9: Issue 10
Open access