TY - JOUR AU - Sarkadi, Balázs AU - Grolmusz, Vince Kornél AU - Butz, Henriett AU - Kövesdi, Annamária AU - Likó, István AU - Nyírő, Gábor AU - Igaz, Péter AU - Patócs, Attila Balázs TI - Molekuláris genetikai vizsgálatok az örökletes endokrinológiai tumor szindrómák klinikai diagnosztikájában JF - ORVOSI HETILAP J2 - ORV HETIL VL - 159 PY - 2018 IS - 7 SP - 285 EP - 292 PG - 8 SN - 0030-6002 DO - 10.1556/650.2018.31036 UR - https://m2.mtmt.hu/api/publication/3333418 ID - 3333418 N1 - Semmelweis Egyetem, Általános Orvostudományi Kar, II. Belgyógyászati Klinika, Hungary Laboratóriumi Medicina Intézet, Budapest, Hungary Magyar Tudományos Akadémia–Semmelweis Egyetem, Lendület Örökletes Endokrin Daganatok Kutatócsoport, Budapest, Hungary Magyar Tudományos Akadémia–Semmelweis Egyetem, Molekuláris Medicina Kutatócsoport, Budapest, Hungary Szentkirályi u. 46, Budapest, 1088, Hungary Cited By :3 Export Date: 5 April 2023 CODEN: ORHEA AB - Abstract: The common features of hereditary endocrine tumour syndromes or multiple endocrine neoplasias (MEN) are the association of various tumours of different endocrine organs in one patient or within the same family. Different types can be distinguished from among which type 1 and type 2 are the most common. The mode of inheritance is autosomal dominant, meaning that there is a 50% chance to inherit the pathogenic alteration. The pathogenic variants of genes responsible for MEN syndromes have also been identified in sporadic endocrine tumours and many cases initially referred to as sporadic have been later categorized as familiar based on genetic analysis. The main role of the molecular genetic analysis in these syndromes is to identify the pathogenic variant, then, after appropriate genetic counseling, to perform the genetic screening of first-degree relatives. Following molecular genetic analysis, the state-of-the-art clinical follow-up of the clinically healthy mutation carriers may decrease or even prevent the morbidity and mortality. Due to technological developments in recent years, the molecular genetic analysis of hereditary tumour syndromes has also been changed. Using next generation based sequencing methods in routine clinical diagnostics, the number of pathogenic genes in endocrine tumours has also increased. The present review focuses on the genetic background of hereditary endocrine tumour syndromes and the recently used molecular biological methods will also be presented. Orv Hetil. 2018; 159(7): 285?292. LA - Hungarian DB - MTMT ER - TY - CHAP AU - Marx, Stephen J. AU - Wells, Samuel A. TI - Multiple Endocrine Neoplasia T2 - Williams Textbook of Endocrinology PB - Elsevier CY - Amsterdam SN - 9780323297387 PY - 2016 SP - 1723 EP - 1761 PG - 39 DO - 10.1016/B978-0-323-29738-7.00039-3 UR - https://m2.mtmt.hu/api/publication/34111365 ID - 34111365 N1 - Cited By :1 Export Date: 19 November 2023 LA - English DB - MTMT ER - TY - JOUR AU - Wells, Samuel A Jr AU - Asa, Sylvia L AU - Dralle, Henning AU - Elisei, Rossella AU - Evans, Douglas B AU - Gagel, Robert F AU - Lee, Nancy AU - Machens, Andreas AU - Moley, Jeffrey F AU - Pacini, Furio AU - Raue, Friedhelm AU - Frank-Raue, Karin AU - Robinson, Bruce AU - Rosenthal, M Sara AU - Santoro, Massimo AU - Schlumberger, Martin AU - Shah, Manisha AU - Waguespack, Steven G TI - Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma JF - THYROID J2 - THYROID VL - 25 PY - 2015 IS - 6 SP - 567 EP - 610 PG - 44 SN - 1050-7256 DO - 10.1089/thy.2014.0335 UR - https://m2.mtmt.hu/api/publication/25349929 ID - 25349929 N1 - Funding Agency and Grant Number: Thyroid Cancer Survivors' Association, Inc., (ThyCa); American Thyroid Association Funding text: The ATA Guidelines Task Force would like to thank and acknowledge those who were of great help during the development of the revised guidelines: Ms. Bobbi Smith, Executive Director of the ATA, and the staff at the ATA, for their continuing involvement and support during the preparation of the manuscript; Ms. Alicia A. Livinski, Biomedical Librarian, National Institutes of Health Library for assistance with the manuscript and bibliography; Dr. Susan Shaw De-Vesa, Biostatistics Branch, National Cancer Institute, for help in calculating the incidence of MEN2A and of MEN2B using the Surveillance, Epidemiology, and End Results (SEER) Stat version 8.1.2 Rate Session. Access the SEER 18 database at www.seer.cancer.gov). Incidence - SEER 18 Regs Research Data + Hurricane Katrina Impacted Louisiana Cases, Nov 2012 Sub (2000-2010) < Katrina/Rita Population Adjustment >- Linked To County Attributes - Total U.S., 1969-2011 Counties, National Cancer Institute, DCCPS, Surveillance Research Program, Surveillance Systems Branch, released April 2013, based on the November 2012 submission. The Thyroid Cancer Survivors' Association, Inc., (ThyCa) for contributing an unrestricted educational grant towards the development of the Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma. The American Thyroid Association provided the remainder of the funding. There was no commercial support. Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Bethesda, MD 20814, United States Department of Pathology, University Health Network, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada Department of General, Visceral and Vascular Surgery, University Hospital, University of Halle-Wittenberg, Halle/Saale, Germany Department of Endocrinology, University of Pisa, Pisa, Italy Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States Department of Endocrine Neoplasia and Hormonal Disorders, Division of Internal Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, United States Department of Radiation Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY, United States Department of Surgery, Washington University, School of Medicine, St. Louis, MO, United States Section of Endocrinology and Metabolism, Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena, Siena, Italy Moleculargenetic Laboratory, Medical Faculty, University of Heidelberg, Heidelberg, Germany University of Sydney, School of Medicine, Sydney, NSW, Australia Departments of Internal Medicine, Pediatrics and Behavioral Science, University of Kentucky, Lexington, KY, United States Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universita' di Napoli Federico II, Napoli, Italy Institut Gustave Roussy, Service de Medecine Nucleaire, Université of Paris-Sud, Villejuif, France Division of Medical Oncology, Department of Internal Medicine, Ohio State University, Columbus, OH, United States Cited By :507 Export Date: 26 July 2019 CODEN: THYRE Correspondence Address: Wells, S.A.; Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, United States Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Bethesda, MD 20814, United States Department of Pathology, University Health Network, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada Department of General, Visceral and Vascular Surgery, University Hospital, University of Halle-Wittenberg, Halle/Saale, Germany Department of Endocrinology, University of Pisa, Pisa, Italy Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States Department of Endocrine Neoplasia and Hormonal Disorders, Division of Internal Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, United States Department of Radiation Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY, United States Department of Surgery, Washington University, School of Medicine, St. Louis, MO, United States Section of Endocrinology and Metabolism, Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena, Siena, Italy Moleculargenetic Laboratory, Medical Faculty, University of Heidelberg, Heidelberg, Germany University of Sydney, School of Medicine, Sydney, NSW, Australia Departments of Internal Medicine, Pediatrics and Behavioral Science, University of Kentucky, Lexington, KY, United States Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universita' di Napoli Federico II, Napoli, Italy Institut Gustave Roussy, Service de Medecine Nucleaire, Université of Paris-Sud, Villejuif, France Division of Medical Oncology, Department of Internal Medicine, Ohio State University, Columbus, OH, United States Cited By :821 Export Date: 22 April 2021 CODEN: THYRE Correspondence Address: Wells, S.A.; Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, United States Funding Agency and Grant Number: Thyroid Cancer Survivors' Association, Inc., (ThyCa); American Thyroid Association; NATIONAL CANCER INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [P30CA016672] Funding Source: NIH RePORTER Funding text: The ATA Guidelines Task Force would like to thank and acknowledge those who were of great help during the development of the revised guidelines: Ms. Bobbi Smith, Executive Director of the ATA, and the staff at the ATA, for their continuing involvement and support during the preparation of the manuscript; Ms. Alicia A. Livinski, Biomedical Librarian, National Institutes of Health Library for assistance with the manuscript and bibliography; Dr. Susan Shaw De-Vesa, Biostatistics Branch, National Cancer Institute, for help in calculating the incidence of MEN2A and of MEN2B using the Surveillance, Epidemiology, and End Results (SEER) Stat version 8.1.2 Rate Session. Access the SEER 18 database at www.seer.cancer.gov). Incidence - SEER 18 Regs Research Data + Hurricane Katrina Impacted Louisiana Cases, Nov 2012 Sub (2000-2010) < Katrina/Rita Population Adjustment >- Linked To County Attributes - Total U.S., 1969-2011 Counties, National Cancer Institute, DCCPS, Surveillance Research Program, Surveillance Systems Branch, released April 2013, based on the November 2012 submission. The Thyroid Cancer Survivors' Association, Inc., (ThyCa) for contributing an unrestricted educational grant towards the development of the Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma. The American Thyroid Association provided the remainder of the funding. There was no commercial support. Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Bethesda, MD 20814, United States Department of Pathology, University Health Network, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada Department of General, Visceral and Vascular Surgery, University Hospital, University of Halle-Wittenberg, Halle/Saale, Germany Department of Endocrinology, University of Pisa, Pisa, Italy Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States Department of Endocrine Neoplasia and Hormonal Disorders, Division of Internal Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, United States Department of Radiation Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY, United States Department of Surgery, Washington University, School of Medicine, St. Louis, MO, United States Section of Endocrinology and Metabolism, Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena, Siena, Italy Moleculargenetic Laboratory, Medical Faculty, University of Heidelberg, Heidelberg, Germany University of Sydney, School of Medicine, Sydney, NSW, Australia Departments of Internal Medicine, Pediatrics and Behavioral Science, University of Kentucky, Lexington, KY, United States Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universita' di Napoli Federico II, Napoli, Italy Institut Gustave Roussy, Service de Medecine Nucleaire, Université of Paris-Sud, Villejuif, France Division of Medical Oncology, Department of Internal Medicine, Ohio State University, Columbus, OH, United States Cited By :869 Export Date: 31 July 2021 CODEN: THYRE Correspondence Address: Wells, S.A.; Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, United States LA - English DB - MTMT ER - TY - JOUR AU - Oriola, J AU - Biarnes, J AU - Hernandez, C AU - Simó, R TI - Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe JF - CLINICAL GENETICS J2 - CLIN GENET VL - 83 PY - 2013 IS - 4 SP - 384 EP - 387 PG - 4 SN - 0009-9163 DO - 10.1111/j.1399-0004.2012.01921.x UR - https://m2.mtmt.hu/api/publication/23233242 ID - 23233242 N1 - Servei de Bioquímica i Genètica Molecular, CDB, Hospital Clínic, University of Barcelona, Barcelona, Spain Unitat d'Endocrinologia Diabetis i Nutrició (UDENTG), CIBEROBN, Hospital Dr Josep Trueta, Girona, Spain CIBERDEM (CIBER de Diabetes y Enfermedades Metabólicas Asociadas), Instituto de Salud Carlos III, Diabetes and Metabolism Research Unit, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain Export Date: 26 July 2019 CODEN: CLGNA Correspondence Address: Oriola, J.; Servei de Bioquímica i Genètica Molecular, CDB, Hospital Clínic, University of Barcelona, Barcelona, Spain; email: joriola@clinic.ub.es Servei de Bioquímica i Genètica Molecular, CDB, Hospital Clínic, University of Barcelona, Barcelona, Spain Unitat d'Endocrinologia Diabetis i Nutrició (UDENTG), CIBEROBN, Hospital Dr Josep Trueta, Girona, Spain CIBERDEM (CIBER de Diabetes y Enfermedades Metabólicas Asociadas), Instituto de Salud Carlos III, Diabetes and Metabolism Research Unit, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain Export Date: 22 April 2021 CODEN: CLGNA Correspondence Address: Oriola, J.; Servei de Bioquímica i Genètica Molecular, CDB, , Barcelona, Spain; email: joriola@clinic.ub.es Servei de Bioquímica i Genètica Molecular, CDB, Hospital Clínic, University of Barcelona, Barcelona, Spain Unitat d'Endocrinologia Diabetis i Nutrició (UDENTG), CIBEROBN, Hospital Dr Josep Trueta, Girona, Spain CIBERDEM (CIBER de Diabetes y Enfermedades Metabólicas Asociadas), Instituto de Salud Carlos III, Diabetes and Metabolism Research Unit, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain Export Date: 31 July 2021 CODEN: CLGNA Correspondence Address: Oriola, J.; Servei de Bioquímica i Genètica Molecular, CDB, , Barcelona, Spain; email: joriola@clinic.ub.es LA - English DB - MTMT ER - TY - JOUR AU - Wells, SA AU - Pacini, F AU - Robinson, BG AU - Santoro, M TI - Multiple Endocrine Neoplasia Type 2 and Familial Medullary Thyroid Carcinoma: An Update JF - JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM J2 - J CLIN ENDOCR METAB VL - 98 PY - 2013 IS - 8 SP - 3149 EP - 3164 PG - 16 SN - 0021-972X DO - 10.1210/jc.2013-1204 UR - https://m2.mtmt.hu/api/publication/23536344 ID - 23536344 N1 - Funding Agency and Grant Number: AstraZeneca; Roche Funding text: B.G.R. has served on advisory boards for AstraZeneca, Eisai, and Bayer. M.S. has received research support from AstraZeneca and Roche and participated in a collaborative study with Ariad. F.P. and S.A.W. have nothing to declare. Cited By :139 Export Date: 26 July 2019 CODEN: JCEMA Correspondence Address: Wells Jr., S.A.; Cancer Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Bethesda, MD 20814, United States; email: wellss@mail.nih.gov Cited By :176 Export Date: 22 April 2021 CODEN: JCEMA Correspondence Address: Wells Jr., S.A.; Cancer Genetics Branch, 37 Convent Drive, Bethesda, MD 20814, United States; email: wellss@mail.nih.gov Funding Agency and Grant Number: AstraZenecaAstraZeneca; RocheRoche Holding Funding text: B.G.R. has served on advisory boards for AstraZeneca, Eisai, and Bayer. M.S. has received research support from AstraZeneca and Roche and participated in a collaborative study with Ariad. F.P. and S.A.W. have nothing to declare. Cited By :184 Export Date: 31 July 2021 CODEN: JCEMA Correspondence Address: Wells Jr., S.A.; Cancer Genetics Branch, 37 Convent Drive, Bethesda, MD 20814, United States; email: wellss@mail.nih.gov LA - English DB - MTMT ER - TY - JOUR AU - Mian, C AU - Sartorato, P AU - Barollo, S AU - Zane, M AU - Opocher, G TI - RET codon 609 mutations: a contribution for better clinical managing JF - CLINICS J2 - CLINICS VL - 67 PY - 2012 IS - Suppl. 1 SP - 33 EP - 36 PG - 4 SN - 1807-5932 DO - 10.6061/clinics/2012(Sup01)07 UR - https://m2.mtmt.hu/api/publication/22354920 ID - 22354920 N1 - Supplement: 1 University of Padova, Department of Medicine, Via Gattamelata, 64, 35128 Padova, Italy Veneto Institute of Oncology, Via Gattamelata, 64, 35128 Padova, Italy Cited By :3 Export Date: 26 July 2019 Correspondence Address: Opocher, G.; University of Padova, Department of Medicine, Via Gattamelata, 64, 35128 Padova, Italy; email: giuseppe.opocher@unipd.it University of Padova, Department of Medicine, Via Gattamelata, 64, 35128 Padova, Italy Veneto Institute of Oncology, Via Gattamelata, 64, 35128 Padova, Italy Cited By :5 Export Date: 22 April 2021 Correspondence Address: Opocher, G.; University of Padova, Via Gattamelata, 64, 35128 Padova, Italy; email: giuseppe.opocher@unipd.it University of Padova, Department of Medicine, Via Gattamelata, 64, 35128 Padova, Italy Veneto Institute of Oncology, Via Gattamelata, 64, 35128 Padova, Italy Cited By :5 Export Date: 31 July 2021 Correspondence Address: Opocher, G.; University of Padova, Via Gattamelata, 64, 35128 Padova, Italy; email: giuseppe.opocher@unipd.it LA - English DB - MTMT ER - TY - CHAP AU - Hoff, Ana O. AU - Camacho, Cleber AU - Maciel, Rui M. B. ED - Yao, JC ED - Hoff, PM ED - Hoff, AO TI - Hereditary and Sporadic Medullary Thyroid Carcinoma T2 - NEUROENDOCRINE TUMORS SN - 9781603279963 PY - 2011 SP - 177 EP - 193 PG - 17 DO - 10.1007/978-1-60327-997-0_11 UR - https://m2.mtmt.hu/api/publication/32068793 ID - 32068793 AB - Medullary thyroid carcinoma (MTC) is an uncommon neuroendocrine tumor that arises from the parafollicular cells of the thyroid gland. These cells produce calcitonin, a peptide that is a useful marker of disease. MTC accounts for approximately 5% of all thyroid carcinomas. Most of the cases are sporadic; 25-30% is hereditary and associated with the multiple endocrine neoplasia type 2 syndrome (MEN2). In 1961, 2 years after the initial description of MTC by Hazard and colleagues. Sipple described the association of MTC with pheochromocytoma, a syndrome that was later denominated multiple endocrine neoplasia type 2 (MEN2). For the past 5 decades, an extensive amount of knowledge has been acquired. Before the discovery of the genetic abnormality associated with the syndrome. the diagnosis and management of patients with hereditary MTC and their family members were based on basal and stimulated levels of calcitonin. In this context, families with MEN2 were characterized, variants of MEN2 were identified, and carriers identified by biochemical screening were treated with thyroidectomy. With the discovery of the gene associated with MEN2 (RET gene) in 1993, management was further refined and genetic analysis became the most sensitive and specific modality to distinguish normal individuals from carriers of MEN2, and the risk of performing a prophylactic thyroidectomy in a normal individual was not a concern anymore. In these past 15 years, new knowledge continues to emerge. We can now correlate fine differences in phenotype with different types of RET mutations and have questioned the significance of different genetic backgrounds, specifically RET polymorphisms, in time of onset and aggressiveness of disease. Furthermore, the discovery of how the RET receptor functions and which signaling pathways are activated has permitted the development of small molecules that target these pathways, inhibiting cell proliferation and tumor growth. LA - English DB - MTMT ER - TY - JOUR AU - Calva, D AU - O, Dorisio T AU - O, Dorisio MS AU - Lal, G AU - Sugg, S AU - Weigel, R AU - Howe, J TI - Reply to, "RET Germline Mutations in Codon 609 and MEN2A Phenotype: Are They All Created Equal?" by Machens and Dralle (ASO-2009-06-0652) JF - ANNALS OF SURGICAL ONCOLOGY J2 - ANN SURG ONCOL VL - 17 PY - 2010 IS - 1 SP - 333 EP - 333 PG - 1 SN - 1068-9265 DO - 10.1245/s10434-009-0753-5 UR - https://m2.mtmt.hu/api/publication/20889544 ID - 20889544 N1 - Department of Surgery, University of Iowa, Carver College of Medicine, Iowa City, IA, United States Department of Pediatrics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States Department of Internal Medicine, University of Iowa, Carver College of Medicine, Iowa City, IA, United States Export Date: 19 November 2023 CODEN: ASONF Correspondence Address: Howe, J.; Department of Surgery, , Iowa City, IA, United States; email: james-howe@uiowa.edu LA - English DB - MTMT ER - TY - JOUR AU - Machens, A AU - Dralle, H TI - RET Germline Mutations in Codon 609 and MEN2A Phenotype: Are They All Created Equal? JF - ANNALS OF SURGICAL ONCOLOGY J2 - ANN SURG ONCOL VL - 17 PY - 2010 IS - 1 SP - 331 EP - 332 PG - 2 SN - 1068-9265 DO - 10.1245/s10434-009-0752-6 UR - https://m2.mtmt.hu/api/publication/20889543 ID - 20889543 N1 - Cited By :1 Export Date: 19 November 2023 CODEN: ASONF Correspondence Address: MacHens, A.; Department of General, Visceral and Vascular Surgery, , Halle (Saale), Germany; email: AndreasMachens@aol.com Chemicals/CAS: amino acid, 65072-01-7; cysteine, 4371-52-2, 52-89-1, 52-90-4; glycine, 56-40-6, 6000-43-7, 6000-44-8; protein Ret, 154251-46-4, 158709-11-6; serine, 56-45-1, 6898-95-9; Codon; Proto-Oncogene Proteins c-ret, 2.7.10.1; RET protein, human, 2.7.1.112 LA - English DB - MTMT ER - TY - JOUR AU - Calva, D AU - O, Dorisio TM AU - O, Dorisio MS AU - Lal, G AU - Sugg, S AU - Weigel, RJ AU - Howe, JR TI - When Is Prophylactic Thyroidectomy Indicated for Patients with the RET Codon 609 Mutation? JF - ANNALS OF SURGICAL ONCOLOGY J2 - ANN SURG ONCOL VL - 16 PY - 2009 IS - 8 SP - 2237 EP - 2244 PG - 8 SN - 1068-9265 DO - 10.1245/s10434-009-0524-3 UR - https://m2.mtmt.hu/api/publication/21359612 ID - 21359612 N1 - Department of Surgery, University of Iowa, College of Medicine, Iowa City, IA, United States Department of Medicine, University of Iowa, College of Medicine, Iowa City, IA, United States Department of Pediatrics, University of Iowa, College of Medicine, Iowa City, IA, United States Cited By :17 Export Date: 19 November 2023 CODEN: ASONF Correspondence Address: Calva, D.; Department of Surgery, , Iowa City, IA, United States Chemicals/CAS: calcitonin, 12321-44-7, 21215-62-3, 9007-12-9; protein Ret, 154251-46-4, 158709-11-6; Biological Markers; Calcitonin, 9007-12-9; Codon; Proto-Oncogene Proteins c-ret, 2.7.1.112; RET protein, human, 2.7.1.112 LA - English DB - MTMT ER - TY - JOUR AU - Kloos, R T AU - Eng, C AU - Evans, D B AU - Francis, G L AU - Gagel, R F AU - Gharib, H AU - Moley, J F AU - Pacini, F AU - Ringel, M D AU - Schlumberger, M AU - Wells, S A Jr TI - Medullary thyroid cancer: Management guidelines of the American Thyroid Association. JF - THYROID J2 - THYROID VL - 19 PY - 2009 IS - 6 SP - 565 EP - 612 PG - 48 SN - 1050-7256 DO - 10.1089/thy.2008.0403 UR - https://m2.mtmt.hu/api/publication/21516440 ID - 21516440 N1 - Funding Agency and Grant Number: AstraZenecaAstraZeneca; Exelixis; EisaiEisai Co Ltd; Pfizer Inc.Pfizer; AmgenAmgen Funding text: Task Force disclosure information is provided for the two years prior to March 2008 and the known future as of February 2009. RTK served as a consultant for AstraZeneca, Bayer Pharmaceuticals Corporation, and Onyx Pharmaceuticals, Inc. (without compensation), and received grant support from Exelixis and Eisai. GLF is a stockholder of Pfizer Inc. RFG served as a consultant for Exelixis, and received grant support from AstraZeneca. MDR served as a consultant for Amgen, and received grant support from Exelixis and Eisai. MS served as a consultant for AstraZeneca; received speaker honoraria from AstraZeneca and Pfizer Inc.; and received or is the potential recipient of grant support from AstraZeneca, Amgen, Exelixis, and Eisai. SAW received speaker honoraria from AstraZeneca. CE, DBE, HG, JFM, and FP report that no competing financial interests exist. LA - English DB - MTMT ER - TY - JOUR AU - Machens, A AU - Lorenz, K AU - Dralle, H TI - Individualization of lymph node dissection in ret (rearranged during transfection) carriers at risk for medullary thyroid cancer value of pretheropeutic calcitonin levels JF - ANNALS OF SURGERY J2 - ANN SURG VL - 250 PY - 2009 IS - 2 SP - 305 EP - 310 PG - 6 SN - 0003-4932 DO - 10.1097/SLA.0b013e3181ae333f UR - https://m2.mtmt.hu/api/publication/20712839 ID - 20712839 LA - English DB - MTMT ER - TY - JOUR AU - Frank-Raue, K AU - Rondot, S AU - Schulze, E AU - Raue, F TI - Change in the spectrum of RET mutations diagnosed between 1994 and 2006 JF - CLINICAL LABORATORY J2 - CLIN LAB VL - 53 PY - 2007 IS - 5-6 SP - 273 EP - 282 PG - 10 SN - 1433-6510 UR - https://m2.mtmt.hu/api/publication/22318211 ID - 22318211 N1 - Cited By :34 Export Date: 29 November 2023 CODEN: CLLAF Correspondence Address: Frank-Raue, K.; Endokrinologisch Gemeinschaftspraxis, Brückenstrasse 21, 69120 Heidelberg, Germany; email: karin.frankraue@raue-endokrinologie.de Chemicals/CAS: calcitonin, 12321-44-7, 21215-62-3, 9007-12-9; pentagastrin, 5534-95-2; protein Ret, 154251-46-4, 158709-11-6; DNA Primers; Proto-Oncogene Proteins c-ret, EC 2.7.1.112; RET protein, human, EC 2.7.1.112 LA - English DB - MTMT ER - TY - JOUR AU - Quayle, F J AU - Fialkowski, E A AU - Benveniste, R AU - Moley, J F TI - Pheochromocytoma penetrance varies by RET mutation in MEN 2A JF - SURGERY J2 - SURGERY (UNITED STATES) VL - 142 PY - 2007 IS - 6 SP - 800 EP - 805 PG - 6 SN - 0039-6060 DO - 10.1016/j.surg.2007.09.013 UR - https://m2.mtmt.hu/api/publication/21379677 ID - 21379677 LA - English DB - MTMT ER - TY - JOUR AU - Asari, R AU - Scheuba, C AU - Kaczirek, K AU - Niederle, B TI - Estimated risk of pheochromocytoma recurrence after adrenal-sparing surgery in patients with multiple endocrine neoplasia type 2A JF - ARCHIVES OF SURGERY J2 - ARCH SURG-CHICAGO VL - 141 PY - 2006 IS - 12 SP - 1199 EP - 1205 PG - 7 SN - 0004-0010 DO - 10.1001/archsurg.141.12.1199 UR - https://m2.mtmt.hu/api/publication/21379681 ID - 21379681 LA - English DB - MTMT ER - TY - JOUR AU - Cheikhrouhou, H AU - Khiari, K AU - Chérif, L AU - Hadj, Ali I AU - Héni, M AU - Rajhi, H AU - Ben, Abdallah N TI - Les phéochromocytomes malins: À propos de trois observations [Malignant pheochromocytomas: About three cases]. JF - ANNALES D ENDOCRINOLOGIE J2 - ANN ENDOCRINOL-PARIS VL - 67 PY - 2006 IS - 3 SP - 238 EP - 244 PG - 7 SN - 0003-4266 DO - 10.1016/S0003-4266(06)72592-6 UR - https://m2.mtmt.hu/api/publication/21379679 ID - 21379679 LA - French DB - MTMT ER - TY - JOUR AU - Patócs, Attila Balázs AU - Klein, Izabella AU - Szilvási, Anikó AU - Gergics, P AU - Tóth, Miklós AU - Valkusz, Zsuzsanna AU - Forizs, E AU - Igaz, Péter AU - Al-Farhat, Y AU - Tordai, Attila AU - Váradi, András AU - Rácz, Károly AU - Ésik, Olga TI - Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer JF - WIENER KLINISCHE WOCHENSCHRIFT: MIDDLE EUROPEAN JOURNAL OF MEDICINE J2 - WIEN KLIN WOCHENSCHR VL - 118 PY - 2006 IS - 13-14 SP - 417 EP - 421 PG - 5 SN - 0043-5325 DO - 10.1007/s00508-006-0635-9 UR - https://m2.mtmt.hu/api/publication/1077742 ID - 1077742 AB - The genotype and phenotype characteristics of Hungarian patients with RET proto-oncogene mutations operated on for hereditary medullary thyroid cancer (MTC) were studied. The genetic screening was performed in two centers and 40 patients with hereditary MTC or C-cell hyperplasia (CCH) from 18 unrelated families were analyzed. One patient having a mutation in exon 16 (Met918Thr) presented with the MEN2B phenotype, six patients from two families had hereditary MTC without pheochromocytoma (pheo) and primary hyperparathyroidism (PHPT), whereas 33 patients from 15 families showed the MEN2A phenotype. Two different mutations were identified in exon 10 (Cys609Tyr and Cys609Ser), five different mutations were present in exon 11 (Cys634Phe, Cys634Arg, Cys634Tyr, Cys634Trp and Cys634Ser), and two different mutations were localized in exon 14 (Val804Met and Val804Leu). Mutations in exon 10 were associated with hereditary MTC (Cys609Tyr) or with MEN2A syndrome (Cys609Ser). Mutations in exon 11 were always associated with the MEN2A phenotype. PHPT was present in one patient with mutation in exon 14 (Val804Met), whereas all other patients affected with mutations in exon 14 had hereditary MTC without PHPT and/or pheos. LA - English DB - MTMT ER - TY - THES AU - Arighi, E TI - Molecular characterisation of RET tyrosine kinase signalling PY - 2005 SP - 100 UR - https://m2.mtmt.hu/api/publication/20654782 ID - 20654782 N1 - hivatkozás a 81. oldalon University of Helsinki LA - English DB - MTMT ER - TY - JOUR AU - Arighi, E AU - Borrello, M G AU - Sariola, H TI - RET tyrosine kinase signaling in development and cancer JF - CYTOKINE & GROWTH FACTOR REVIEWS J2 - CYTOKINE GROWTH F R VL - 16 PY - 2005 IS - 4-5 SP - 441 EP - 467 PG - 27 SN - 1359-6101 DO - 10.1016/j.cytogfr.2005.05.010 UR - https://m2.mtmt.hu/api/publication/21379682 ID - 21379682 LA - English DB - MTMT ER - TY - JOUR AU - Machens, A AU - Ukkat, J AU - Brauckhoff, M AU - Gimm, O AU - Dralle, H TI - Advances in the management of hereditary medullary thyroid cancer. JF - JOURNAL OF INTERNAL MEDICINE J2 - J INTERN MED VL - 257 PY - 2005 IS - 1 SP - 50 EP - 59 PG - 10 SN - 0954-6820 DO - 10.1111/j.1365-2796.2004.01423.x UR - https://m2.mtmt.hu/api/publication/21568550 ID - 21568550 LA - English DB - MTMT ER - TY - JOUR AU - Machens, A AU - Brauckhoff, M AU - Holzhausen, H -J AU - Thanh, P N AU - Lehnert, H AU - Dralle, H TI - Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2 JF - JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM J2 - J CLIN ENDOCR METAB VL - 90 PY - 2005 IS - 7 SP - 3999 EP - 4003 PG - 5 SN - 0021-972X DO - 10.1210/jc.2005-0064 UR - https://m2.mtmt.hu/api/publication/21379685 ID - 21379685 LA - English DB - MTMT ER - TY - JOUR AU - Peczkowska, M AU - Januszewicz, A TI - Multiple endocrine neoplasia type 2 JF - FAMILIAL CANCER J2 - FAM CANCER VL - 4 PY - 2005 SP - 25 EP - 36 PG - 12 SN - 1389-9600 DO - 10.1007/s10689-005-0656-y UR - https://m2.mtmt.hu/api/publication/20024411 ID - 20024411 LA - English DB - MTMT ER - TY - CHAP AU - Pierotti, MA AU - Arighi, A AU - Degl'innocenti, D AU - Borrello, MG ED - Farid, NR TI - Ret Activation in Medullary Carcinomas T2 - Molecular Basis of Thyroid Cancer PB - Springer Netherlands T3 - Cancer Treatment and Research ; 122. PB - Springer Netherlands PY - 2005 SP - 389 EP - 415 PG - 27 UR - https://m2.mtmt.hu/api/publication/23156957 ID - 23156957 N1 - Google Scholar URL: http://link.springer.com/chapter/10.1007/1-4020-8107-3_23#page-1 70. hivatkozás LA - English DB - MTMT ER - TY - JOUR AU - Quayle, F J AU - Moley, J F TI - Medullary thyroid carcinoma: Including MEN 2A and MEN 2B syndromes JF - JOURNAL OF SURGICAL ONCOLOGY J2 - J SURG ONCOL VL - 89 PY - 2005 IS - 3 SP - 122 EP - 129 PG - 8 SN - 0022-4790 DO - 10.1002/jso.20184 UR - https://m2.mtmt.hu/api/publication/21379684 ID - 21379684 LA - English DB - MTMT ER -