@article{MTMT:3333418,
	title = {Molekuláris genetikai vizsgálatok az örökletes endokrinológiai tumor szindrómák klinikai diagnosztikájában},
	url = {https://m2.mtmt.hu/api/publication/3333418},
	author = {Sarkadi, Balázs and Grolmusz, Vince Kornél and Butz, Henriett and Kövesdi, Annamária and Likó, István and Nyírő, Gábor and Igaz, Péter and Patócs, Attila Balázs},
	doi = {10.1556/650.2018.31036},
	journal-iso = {ORV HETIL},
	journal = {ORVOSI HETILAP},
	volume = {159},
	unique-id = {3333418},
	issn = {0030-6002},
	abstract = {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.},
	keywords = {MUTATION; Sequencing; parathyroid gland; Phaeochromocytoma; mutáció; MELLÉKPAJZSMIRIGY; hereditary endocrine tumour syndromes; szekvenálás; örökletes tumorszindrómák},
	year = {2018},
	eissn = {1788-6120},
	pages = {285-292},
	orcid-numbers = {Sarkadi, Balázs/0000-0002-5839-1601; Grolmusz, Vince Kornél/0000-0002-5677-895X; Butz, Henriett/0000-0003-1664-409X; Kövesdi, Annamária/0000-0001-8067-1792; Likó, István/0000-0001-7668-4726; Nyírő, Gábor/0000-0002-0248-0007; Igaz, Péter/0000-0003-2192-554X; Patócs, Attila Balázs/0000-0001-7506-674X}
}

@{MTMT:34111365,
	title = {Multiple Endocrine Neoplasia},
	url = {https://m2.mtmt.hu/api/publication/34111365},
	author = {Marx, Stephen J. and Wells, Samuel A.},
	booktitle = {Williams Textbook of Endocrinology},
	doi = {10.1016/B978-0-323-29738-7.00039-3},
	unique-id = {34111365},
	year = {2016},
	pages = {1723-1761}
}

@article{MTMT:25349929,
	title = {Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma},
	url = {https://m2.mtmt.hu/api/publication/25349929},
	author = {Wells, Samuel A Jr and Asa, Sylvia L and Dralle, Henning and Elisei, Rossella and Evans, Douglas B and Gagel, Robert F and Lee, Nancy and Machens, Andreas and Moley, Jeffrey F and Pacini, Furio and Raue, Friedhelm and Frank-Raue, Karin and Robinson, Bruce and Rosenthal, M Sara and Santoro, Massimo and Schlumberger, Martin and Shah, Manisha and Waguespack, Steven G},
	doi = {10.1089/thy.2014.0335},
	journal-iso = {THYROID},
	journal = {THYROID},
	volume = {25},
	unique-id = {25349929},
	issn = {1050-7256},
	year = {2015},
	eissn = {1557-9077},
	pages = {567-610}
}

@article{MTMT:23233242,
	title = {Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe},
	url = {https://m2.mtmt.hu/api/publication/23233242},
	author = {Oriola, J and Biarnes, J and Hernandez, C and Simó, R},
	doi = {10.1111/j.1399-0004.2012.01921.x},
	journal-iso = {CLIN GENET},
	journal = {CLINICAL GENETICS},
	volume = {83},
	unique-id = {23233242},
	issn = {0009-9163},
	year = {2013},
	eissn = {1399-0004},
	pages = {384-387}
}

@article{MTMT:23536344,
	title = {Multiple Endocrine Neoplasia Type 2 and Familial Medullary Thyroid Carcinoma: An Update},
	url = {https://m2.mtmt.hu/api/publication/23536344},
	author = {Wells, SA and Pacini, F and Robinson, BG and Santoro, M},
	doi = {10.1210/jc.2013-1204},
	journal-iso = {J CLIN ENDOCR METAB},
	journal = {JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM},
	volume = {98},
	unique-id = {23536344},
	issn = {0021-972X},
	year = {2013},
	eissn = {1945-7197},
	pages = {3149-3164}
}

@article{MTMT:22354920,
	title = {RET codon 609 mutations: a contribution for better clinical managing},
	url = {https://m2.mtmt.hu/api/publication/22354920},
	author = {Mian, C and Sartorato, P and Barollo, S and Zane, M and Opocher, G},
	doi = {10.6061/clinics/2012(Sup01)07},
	journal-iso = {CLINICS},
	journal = {CLINICS},
	volume = {67},
	unique-id = {22354920},
	issn = {1807-5932},
	year = {2012},
	eissn = {1980-5322},
	pages = {33-36}
}

@{MTMT:32068793,
	title = {Hereditary and Sporadic Medullary Thyroid Carcinoma},
	url = {https://m2.mtmt.hu/api/publication/32068793},
	author = {Hoff, Ana O. and Camacho, Cleber and Maciel, Rui M. B.},
	booktitle = {NEUROENDOCRINE TUMORS},
	doi = {10.1007/978-1-60327-997-0_11},
	unique-id = {32068793},
	abstract = {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.},
	keywords = {CALCITONIN; Thyroidectomy; Oncology; pheochromocytoma; PHASE-II TRIAL; Genotype–phenotype correlation; NEOPLASIA TYPE 2A; cutaneous lichen amyloidosis; MEN2; TYROSINE KINASE DOMAIN; ANTIGEN DOUBLING-TIMES; Parafollicular cells of the thyroid; RET polymorphisms; RET PROTOONCOGENE MUTATIONS; STANDARDIZED SURGICAL APPROACH; 80 CONSECUTIVE PATIENTS},
	year = {2011},
	pages = {177-193}
}

@article{MTMT:20889544,
	title = {Reply to, "RET Germline Mutations in Codon 609 and MEN2A Phenotype: Are They All Created Equal?" by Machens and Dralle (ASO-2009-06-0652)},
	url = {https://m2.mtmt.hu/api/publication/20889544},
	author = {Calva, D and O, Dorisio T and O, Dorisio MS and Lal, G and Sugg, S and Weigel, R and Howe, J},
	doi = {10.1245/s10434-009-0753-5},
	journal-iso = {ANN SURG ONCOL},
	journal = {ANNALS OF SURGICAL ONCOLOGY},
	volume = {17},
	unique-id = {20889544},
	issn = {1068-9265},
	year = {2010},
	eissn = {1534-4681},
	pages = {333-333}
}

@article{MTMT:20889543,
	title = {RET Germline Mutations in Codon 609 and MEN2A Phenotype: Are They All Created Equal?},
	url = {https://m2.mtmt.hu/api/publication/20889543},
	author = {Machens, A and Dralle, H},
	doi = {10.1245/s10434-009-0752-6},
	journal-iso = {ANN SURG ONCOL},
	journal = {ANNALS OF SURGICAL ONCOLOGY},
	volume = {17},
	unique-id = {20889543},
	issn = {1068-9265},
	year = {2010},
	eissn = {1534-4681},
	pages = {331-332}
}

@article{MTMT:21359612,
	title = {When Is Prophylactic Thyroidectomy Indicated for Patients with the RET Codon 609 Mutation?},
	url = {https://m2.mtmt.hu/api/publication/21359612},
	author = {Calva, D and O, Dorisio TM and O, Dorisio MS and Lal, G and Sugg, S and Weigel, RJ and Howe, JR},
	doi = {10.1245/s10434-009-0524-3},
	journal-iso = {ANN SURG ONCOL},
	journal = {ANNALS OF SURGICAL ONCOLOGY},
	volume = {16},
	unique-id = {21359612},
	issn = {1068-9265},
	year = {2009},
	eissn = {1534-4681},
	pages = {2237-2244}
}

@article{MTMT:21516440,
	title = {Medullary thyroid cancer: Management guidelines of the American Thyroid Association.},
	url = {https://m2.mtmt.hu/api/publication/21516440},
	author = {Kloos, R T and Eng, C and Evans, D B and Francis, G L and Gagel, R F and Gharib, H and Moley, J F and Pacini, F and Ringel, M D and Schlumberger, M and Wells, S A Jr},
	doi = {10.1089/thy.2008.0403},
	journal-iso = {THYROID},
	journal = {THYROID},
	volume = {19},
	unique-id = {21516440},
	issn = {1050-7256},
	year = {2009},
	eissn = {1557-9077},
	pages = {565-612}
}

@article{MTMT:20712839,
	title = {Individualization of lymph node dissection in ret (rearranged during transfection) carriers at risk for medullary thyroid cancer value of pretheropeutic calcitonin levels},
	url = {https://m2.mtmt.hu/api/publication/20712839},
	author = {Machens, A and Lorenz, K and Dralle, H},
	doi = {10.1097/SLA.0b013e3181ae333f},
	journal-iso = {ANN SURG},
	journal = {ANNALS OF SURGERY},
	volume = {250},
	unique-id = {20712839},
	issn = {0003-4932},
	year = {2009},
	eissn = {1528-1140},
	pages = {305-310}
}

@article{MTMT:22318211,
	title = {Change in the spectrum of RET mutations diagnosed between 1994 and 2006},
	url = {https://m2.mtmt.hu/api/publication/22318211},
	author = {Frank-Raue, K and Rondot, S and Schulze, E and Raue, F},
	journal-iso = {CLIN LAB},
	journal = {CLINICAL LABORATORY},
	volume = {53},
	unique-id = {22318211},
	issn = {1433-6510},
	year = {2007},
	eissn = {1433-6510},
	pages = {273-282}
}

@article{MTMT:21379677,
	title = {Pheochromocytoma penetrance varies by RET mutation in MEN 2A},
	url = {https://m2.mtmt.hu/api/publication/21379677},
	author = {Quayle, F J and Fialkowski, E A and Benveniste, R and Moley, J F},
	doi = {10.1016/j.surg.2007.09.013},
	journal-iso = {SURGERY (UNITED STATES)},
	journal = {SURGERY},
	volume = {142},
	unique-id = {21379677},
	issn = {0039-6060},
	year = {2007},
	pages = {800-805}
}

@article{MTMT:21379681,
	title = {Estimated risk of pheochromocytoma recurrence after adrenal-sparing surgery in patients with multiple endocrine neoplasia type 2A},
	url = {https://m2.mtmt.hu/api/publication/21379681},
	author = {Asari, R and Scheuba, C and Kaczirek, K and Niederle, B},
	doi = {10.1001/archsurg.141.12.1199},
	journal-iso = {ARCH SURG-CHICAGO},
	journal = {ARCHIVES OF SURGERY},
	volume = {141},
	unique-id = {21379681},
	issn = {0004-0010},
	year = {2006},
	eissn = {1538-3644},
	pages = {1199-1205}
}

@article{MTMT:21379679,
	title = {Les phéochromocytomes malins: À propos de trois observations [Malignant pheochromocytomas: About three cases].},
	url = {https://m2.mtmt.hu/api/publication/21379679},
	author = {Cheikhrouhou, H and Khiari, K and Chérif, L and Hadj, Ali I and Héni, M and Rajhi, H and Ben, Abdallah N},
	doi = {10.1016/S0003-4266(06)72592-6},
	journal-iso = {ANN ENDOCRINOL-PARIS},
	journal = {ANNALES D ENDOCRINOLOGIE},
	volume = {67},
	unique-id = {21379679},
	issn = {0003-4266},
	year = {2006},
	eissn = {2213-3941},
	pages = {238-244}
}

@article{MTMT:1077742,
	title = {Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer},
	url = {https://m2.mtmt.hu/api/publication/1077742},
	author = {Patócs, Attila Balázs and Klein, Izabella and Szilvási, Anikó and Gergics, P and Tóth, Miklós and Valkusz, Zsuzsanna and Forizs, E and Igaz, Péter and Al-Farhat, Y and Tordai, Attila and Váradi, András and Rácz, Károly and Ésik, Olga},
	doi = {10.1007/s00508-006-0635-9},
	journal-iso = {WIEN KLIN WOCHENSCHR},
	journal = {WIENER KLINISCHE WOCHENSCHRIFT: MIDDLE EUROPEAN JOURNAL OF MEDICINE},
	volume = {118},
	unique-id = {1077742},
	issn = {0043-5325},
	abstract = {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.},
	year = {2006},
	eissn = {1613-7671},
	pages = {417-421},
	orcid-numbers = {Patócs, Attila Balázs/0000-0001-7506-674X; Szilvási, Anikó/0000-0002-4092-6073; Tóth, Miklós/0000-0002-8701-408X; Valkusz, Zsuzsanna/0000-0003-1928-6160; Igaz, Péter/0000-0003-2192-554X; Tordai, Attila/0000-0001-6966-1622}
}

@mastersthesis{MTMT:20654782,
	title = {Molecular characterisation of RET tyrosine kinase signalling},
	url = {https://m2.mtmt.hu/api/publication/20654782},
	author = {Arighi, E},
	unique-id = {20654782},
	year = {2005}
}

@article{MTMT:21379682,
	title = {RET tyrosine kinase signaling in development and cancer},
	url = {https://m2.mtmt.hu/api/publication/21379682},
	author = {Arighi, E and Borrello, M G and Sariola, H},
	doi = {10.1016/j.cytogfr.2005.05.010},
	journal-iso = {CYTOKINE GROWTH F R},
	journal = {CYTOKINE & GROWTH FACTOR REVIEWS},
	volume = {16},
	unique-id = {21379682},
	issn = {1359-6101},
	year = {2005},
	eissn = {1879-0305},
	pages = {441-467}
}

@article{MTMT:21568550,
	title = {Advances in the management of hereditary medullary thyroid cancer.},
	url = {https://m2.mtmt.hu/api/publication/21568550},
	author = {Machens, A and Ukkat, J and Brauckhoff, M and Gimm, O and Dralle, H},
	doi = {10.1111/j.1365-2796.2004.01423.x},
	journal-iso = {J INTERN MED},
	journal = {JOURNAL OF INTERNAL MEDICINE},
	volume = {257},
	unique-id = {21568550},
	issn = {0954-6820},
	year = {2005},
	eissn = {1365-2796},
	pages = {50-59}
}

@article{MTMT:21379685,
	title = {Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2},
	url = {https://m2.mtmt.hu/api/publication/21379685},
	author = {Machens, A and Brauckhoff, M and Holzhausen, H -J and Thanh, P N and Lehnert, H and Dralle, H},
	doi = {10.1210/jc.2005-0064},
	journal-iso = {J CLIN ENDOCR METAB},
	journal = {JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM},
	volume = {90},
	unique-id = {21379685},
	issn = {0021-972X},
	year = {2005},
	eissn = {1945-7197},
	pages = {3999-4003}
}

@article{MTMT:20024411,
	title = {Multiple endocrine neoplasia type 2},
	url = {https://m2.mtmt.hu/api/publication/20024411},
	author = {Peczkowska, M and Januszewicz, A},
	doi = {10.1007/s10689-005-0656-y},
	journal-iso = {FAM CANCER},
	journal = {FAMILIAL CANCER},
	volume = {4},
	unique-id = {20024411},
	issn = {1389-9600},
	year = {2005},
	eissn = {1573-7292},
	pages = {25-36}
}

@{MTMT:23156957,
	title = {Ret Activation in Medullary Carcinomas},
	url = {https://m2.mtmt.hu/api/publication/23156957},
	author = {Pierotti, MA and Arighi, A and Degl'innocenti, D and Borrello, MG},
	booktitle = {Molecular Basis of Thyroid Cancer},
	publisher = {Springer Netherlands},
	unique-id = {23156957},
	year = {2005},
	pages = {389-415}
}

@article{MTMT:21379684,
	title = {Medullary thyroid carcinoma: Including MEN 2A and MEN 2B syndromes},
	url = {https://m2.mtmt.hu/api/publication/21379684},
	author = {Quayle, F J and Moley, J F},
	doi = {10.1002/jso.20184},
	journal-iso = {J SURG ONCOL},
	journal = {JOURNAL OF SURGICAL ONCOLOGY},
	volume = {89},
	unique-id = {21379684},
	issn = {0022-4790},
	year = {2005},
	eissn = {1096-9098},
	pages = {122-129}
}