Novel Brafi599ins Mutation Identified in a Follicular Variant of Papillary Thyroid Carcinoma: a Molecular Modeling Approach |
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| Affiliation: | 1. Department of Pathology and Medical Biology, Division Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands;2. Top Institute Food and Nutrition, Wageningen, The Netherlands;3. Department of Business and Economics, University of Duisburg-Essen, Essen, Germany;4. Department of Economics, Econometrics and Finance, University of Groningen, Groningen, The Netherlands;5. Department of Epidemiology, HPC FA40, University of Groningen, University Medical Center Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands;1. Grunberger Diabetes Institute, Bloomfield Hills, Michigan;2. Internal Medicine and Molecular Medicine & Genetics, Wayne State University School of Medicine, Bloomfield Hills, Michigan;3. St. Peters Health Partners Diabetes Program, Slingerlands, New York;4. UCSD School of Medicine, San Diego, California;5. AMCR Institute, Escondido, California;6. Atlanta Diabetes Associates, Atlanta, Georgia;7. Emory University School of Medicine, Atlanta, Georgia;8. Metabolic Institute of America, Tarzana, California;9. University of Missouri-Kansas City School of Medicine, North Kansas City, Missouri;10. Keck School of Medicine, Los Angeles, California;11. University of California, Santa Barbara, California;12. Sansum Diabetes Research Institute, Santa Barbara, California;13. Mountain Diabetes and Endocrine Center, Asheville, North Carolina;14. University of Texas Southwestern Medical Center, Dallas, Texas;15. Yale School of Medicine, New Haven, Connecticut.;1. Division of Endocrinology, Metabolism and Nutrition, Department of Medicine, Rochester,Minnesota.;2. Division of Clinical Biochemistry and Immunology, Department of Laboratory Medicine and Pathology; Mayo Clinic, Rochester, Minnesota.;1. Diskapi Yildirim Beyazit Training and Research Hospital, Department of Endocrinology and Metabolic Diseases, Ankara, Turkey;2. Ankara University, School of Medicine, Department of Endocrinology and Metabolic Diseases, Ankara, Turkey;3. Diskapi Yildirim Beyazit Training and Research Hospital, Department of Biochemistry, Ankara, Turkey;4. Hacettepe University, School of Medicine (Kastamonu), Ankara-Turkey. |
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| Abstract: | Objective: BRAF mutations are the most common genetic alteration found in papillary thyroid carcinoma (PTC). Approximately, 90% correspond to BRAFV600E, although other less common BRAF mutations have been described. The aim of this study was to describe a new mutation on BRAF gene discovered on the previous thyroid cytology of a patient diagnosed with a follicular variant of PTC (FV-PTC).Methods: The mutation was identified by independent cloning of the 2 alleles and direct sequencing in thePheochromocytoma and Tetralogy of Fallot: a Rare But Potentially Dangerous CombinationRajeev Kasaliwal; Vijaya Sarathi; Reshma Pandit; Sweta R. Budyal; Amol Bukan; Harshal Kakade; Varsha S. Jagtap; Anurag R. Lila; Tushar Bandgar; Padmavathy S. Menon; Nalini S. ShahHypercalcemia and Acromegaly – Clarifying the connections: A Case Report and Review of the LiteraturePooja Manroa; Subramanian Kannan; Betul Hatipoglu; Angelo LicataA Case of “Late-Onset” Idiopathic Infantile Hypercalcemia Secondary to Mutations in the Cyp24a1 GenePeter Wolf; Thomas Müller-Sacherer; Sabina Baumgartner-Parzer; Yvonne Winhofer; Judit Kroo; Alois Gessl, Anton Luger; Michael Krebs |
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