multiple endocrine neoplasia type 2a

Summary

Summary: A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.

Top Publications

  1. ncbi Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
    L M Mulligan
    Department of Pathology, University of Cambridge, UK
    Hum Mol Genet 3:2163-7. 1994
  2. ncbi Guidelines for diagnosis and therapy of MEN type 1 and type 2
    M L Brandi
    Department of Internal Medicine, University of Florence, 50139 Florence, Italy
    J Clin Endocrinol Metab 86:5658-71. 2001
  3. ncbi The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis
    C Eng
    Division of Cancer Epidemiology and Control, Dana Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, MA 02115 6084, USA
    JAMA 276:1575-9. 1996
  4. doi Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
    Karin Frank-Raue
    Endocrine Practice and Molecular Laboratory, Heidelberg, Germany
    Hum Mutat 32:51-8. 2011
  5. doi RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management
    S Mukherjee
    Beaumont Cancer Genetics Program, Beaumont Cancer Institute, William Beaumont Hospital, Royal Oak, MI 48073, USA
    Clin Genet 79:1-16. 2011
  6. doi Prognostic factors of disease-free survival after thyroidectomy in 170 young patients with a RET germline mutation: a multicenter study of the Groupe Francais d'Etude des Tumeurs Endocrines
    V Rohmer
    Centre Hospitalier Universitaire Angers, Endocrinologie, Faculte de Medecine, Université Angers, Angers 49933, France
    J Clin Endocrinol Metab 96:E509-18. 2011
  7. doi Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation
    Ioana N Milos
    Section of Preventive Medicine, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
    Endocr Relat Cancer 15:1035-41. 2008
  8. ncbi Association of multiple endocrine neoplasia type 2 and Hirschsprung disease
    G Romeo
    Department of Pediatric Surgery, Instituto G and University of Genoa Medical School, Italy
    J Intern Med 243:515-20. 1998
  9. pmc Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome
    Zoran Erlic
    Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs University, Freiburg, D 79106 Freiburg, Germany
    J Clin Endocrinol Metab 95:308-13. 2010
  10. doi Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes
    Cristina Romei
    Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy
    Eur J Endocrinol 163:301-8. 2010

Research Grants

  1. Regulation of Receptor Tyrosine Kinases
    Daniel Donoghue; Fiscal Year: 2005
  2. EDRN: Clinical Epidemiology & Validation Centers
    Henry Lynch; Fiscal Year: 2007
  3. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2004
  4. CORE--MOLECULAR PATHOLOGY
    Ronald Delellis; Fiscal Year: 2002

Detail Information

Publications232 found, 100 shown here

  1. ncbi Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
    L M Mulligan
    Department of Pathology, University of Cambridge, UK
    Hum Mol Genet 3:2163-7. 1994
    ..We suggest that specific mutations in cysteine codons 618 and 620 result in MEN 2A or FMTC, but can also predispose to HSCR with low penetrance...
  2. ncbi Guidelines for diagnosis and therapy of MEN type 1 and type 2
    M L Brandi
    Department of Internal Medicine, University of Florence, 50139 Florence, Italy
    J Clin Endocrinol Metab 86:5658-71. 2001
    ....
  3. ncbi The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis
    C Eng
    Division of Cancer Epidemiology and Control, Dana Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, MA 02115 6084, USA
    JAMA 276:1575-9. 1996
    ..The purpose of this study was to establish the relationship between specific mutations and the presence of certain disease features in MEN 2 which could help in clinical decision making...
  4. doi Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
    Karin Frank-Raue
    Endocrine Practice and Molecular Laboratory, Heidelberg, Germany
    Hum Mutat 32:51-8. 2011
    ..Our data provide rigorous bases for timing of premorbid diagnosis and personalized treatment/prophylactic procedure decisions depending on specific RET exon 10 codons affected...
  5. doi RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management
    S Mukherjee
    Beaumont Cancer Genetics Program, Beaumont Cancer Institute, William Beaumont Hospital, Royal Oak, MI 48073, USA
    Clin Genet 79:1-16. 2011
    ..This review summarizes the genotypic and phenotypic characteristics of RET codon 804 mutation, a prototype for the less well-defined non-cysteine RET mutations associated with MEN 2...
  6. doi Prognostic factors of disease-free survival after thyroidectomy in 170 young patients with a RET germline mutation: a multicenter study of the Groupe Francais d'Etude des Tumeurs Endocrines
    V Rohmer
    Centre Hospitalier Universitaire Angers, Endocrinologie, Faculte de Medecine, Université Angers, Angers 49933, France
    J Clin Endocrinol Metab 96:E509-18. 2011
    ..In hereditary medullary thyroid carcinoma (HMTC), prophylactic surgery is the only curative option, which should be properly defined both in time and extent...
  7. doi Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation
    Ioana N Milos
    Section of Preventive Medicine, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
    Endocr Relat Cancer 15:1035-41. 2008
    ..These data provide, for the first time, RET C634W-specific neoplastic risk and age-related penetrance profiles. The data may facilitate risk assessment and genetic counseling...
  8. ncbi Association of multiple endocrine neoplasia type 2 and Hirschsprung disease
    G Romeo
    Department of Pediatric Surgery, Instituto G and University of Genoa Medical School, Italy
    J Intern Med 243:515-20. 1998
    ....
  9. pmc Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome
    Zoran Erlic
    Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs University, Freiburg, D 79106 Freiburg, Germany
    J Clin Endocrinol Metab 95:308-13. 2010
    ..This observation of coincident DNA variants, both reported as pathogenic, in two known susceptibility genes prompted the question of their pathogenic relevance...
  10. doi Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes
    Cristina Romei
    Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy
    Eur J Endocrinol 163:301-8. 2010
    ..The prevalence of these rare genetic diseases and their corresponding RET mutations are unknown due to the small size of the study population...
  11. doi High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene
    Rodrigo A Toledo
    Faculdade de Medicina da Universidade de Sao Paulo, Avenida Dr Arnaldo, 455, 5 degrees andar, Cerqueira Cesar, 012406 903, Sao Paulo, Brazil
    J Clin Endocrinol Metab 95:1318-27. 2010
    ....
  12. doi Update multiple endocrine neoplasia type 2
    Friedhelm Raue
    Endocrine Practice, Heidelberg, Germany
    Fam Cancer 9:449-57. 2010
    ..MEN 2 gives a unique model for early prevention and cure of cancer and for stratified roles of mutation-based diagnosis of carriers...
  13. ncbi RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome
    Marcia K Puñales
    Endocrine Division, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035 003, Rio Grande do Sul, Brazil
    J Clin Endocrinol Metab 88:2644-9. 2003
    ..001). Our results suggest that specific nucleotide and amino acid exchanges at codon 634 might have a direct impact on tumor aggressiveness in MEN 2A syndrome...
  14. ncbi Pheochromocytoma penetrance varies by RET mutation in MEN 2A
    Frank J Quayle
    Washington University School of Medicine, St Louis, MO 63110, USA
    Surgery 142:800-5; discussion 805.e1. 2007
    The occurrence of pheochromocytoma in multiple endocrine neoplasia type 2A (MEN 2A) carriers varies greatly. This study aims to determine PC expression for specific MEN 2A RET mutations.
  15. doi MicroRNA expression profiling in benign (sporadic and hereditary) and recurring adrenal pheochromocytomas
    Zsófia Tömböl
    Faculty of Medicine, 2nd Department of Medicine, Semmelweis University, Budapest, Hungary
    Mod Pathol 23:1583-95. 2010
    ..MicroRNA expression patterns differ between various sporadic, hereditary and recurring tumors and miR-1225-3p may be useful for identifying recurring pheochromocytomas...
  16. doi Evolution of surgical treatment of primary hyperparathyroidism in patients with multiple endocrine neoplasia type 2A
    Anouk Scholten
    Department of Surgical Oncology and Endocrine Surgery, University Medical Center Utrecht, The Netherlands
    Endocr Pract 17:7-15. 2011
    To determine the best surgical strategy for patients with multiple endocrine neoplasia type 2A (MEN 2A) who have primary hyperparathyroidism (PHPT).
  17. doi Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B
    D Zenaty
    Paediatric Endocrinology Department, Centre de Référence Maladies Endocriniennes Rares de la Croissance Paediatric Surgery Department Pathology, Assistance Publique Hopitaux de Paris, Robert Debre Hospital, 75019 Paris, France
    Eur J Endocrinol 160:807-13. 2009
    ..Early prophylactic thyroidectomy in patients with multiple endocrine neoplasia (MEN) type 2 offers the best chance for a normal life expectancy...
  18. ncbi RET alternate splicing influences the interaction of activated RET with the SH2 and PTB domains of Shc, and the SH2 domain of Grb2
    M J Lorenzo
    CRC Human Cancer Genetics Research Group, University of Cambridge, Department of Pathology, Cambridge, UK
    Oncogene 14:763-71. 1997
    ..In addition, a splice isoform-specific HSCR missense mutation, which does not inactivate the RET kinase activity, decreases the strength of the PTB domain interaction and the level of RET-dependent Shc phosphorylation...
  19. ncbi Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship
    Linwah Yip
    Department of Surgical Oncology, The University of Texas M D Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030, USA
    Arch Surg 138:409-16; discussion 416. 2003
    ..Subtypes are defined by the presence or absence of pheochromocytomas, hyperparathyroidism, and characteristic clinical stigmas. We hypothesize that specific RET mutations correlate with the MEN 2 phenotype and aggressiveness of MTC...
  20. doi Array-comparative genomic hybridization in sporadic benign pheochromocytomas
    Francien H van Nederveen
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
    Endocr Relat Cancer 16:505-13. 2009
    ..In addition, genes on 21q and 22q might play a more important role in PCC pathogenesis than had been assumed thus far...
  21. doi RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest
    Eliska Vaclavikova
    Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 116 94, Prague 1, Czech Republic
    Endocrine 36:419-24. 2009
    ..A rare case of malignant pheochromocytoma in a patient with the Tyr791Phe mutation is presented. This study shows various clinical characteristics of the frequently discussed Tyr791Phe mutation...
  22. ncbi Familial prevalence and age of RET germline mutations: implications for screening
    Andreas Machens
    Department of General, Visceral and Vascular Surgery, Martin Luther University Halle Wittenberg, Halle Saale, Germany
    Clin Endocrinol (Oxf) 69:81-7. 2008
    ..The current investigation was undertaken to provide such natural history data which are urgently needed to enable factual decision-making about DNA-based screening programmes for RET germline mutations...
  23. doi Modification of multiple endocrine neoplasia 2A phenotype by cell membrane proximity of RET mutations in exon 10
    Andreas Machens
    Department of General, Visceral and Vascular Surgery Pathology, Martin Luther University Halle Wittenberg, Ernst Grube Strasse 40, D 06097 Halle, Germany
    Endocr Relat Cancer 16:171-7. 2009
    ..Although limited in numbers, these data suggested that membrane proximity is an important determinant of tumor development in carriers of RET mutations in exon 10...
  24. ncbi A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A
    I Berndt
    Institute for Hormone and Fertility Research, University of Hamburg, Germany
    J Clin Endocrinol Metab 83:770-4. 1998
    One hundred and eighty-one families with multiple endocrine neoplasia type 2A (MEN-2A) or familial medullary thyroid carcinoma (FMTC) have been investigated for mutations in the ret protooncogene in Germany...
  25. ncbi RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center
    Rossella Elisei
    Department of Endocrinology, University of Pisa, Via Paradisa 2, 56100 Pisa, Italy
    J Clin Endocrinol Metab 92:4725-9. 2007
    ....
  26. doi RET genetic screening of sporadic medullary thyroid cancer (MTC) allows the preclinical diagnosis of unsuspected gene carriers and the identification of a relevant percentage of hidden familial MTC (FMTC)
    C Romei
    Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy
    Clin Endocrinol (Oxf) 74:241-7. 2011
    ..e. gene carriers) who are unaware of their condition...
  27. doi Surgical management of MEN-1 and -2: state of the art
    Goran Akerstrom
    Department of Surgery, University Hospital, Uppsala, 751 85 Sweden
    Surg Clin North Am 89:1047-68. 2009
    ..Prophylactic thyroidectomy based on DNA testing in the MEN-2 syndrome is considered one of the greater achievements in cancer treatment, because it may be performed before thyroid carcinoma development and provides cure for the patient...
  28. ncbi Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2
    Sergio Pereira de Almeida Toledo
    Genetic Endocrinology Unit LIM 25, Internal Medicine Department, Sao Paulo University Medical School, Sao Paulo SP, Brazil
    Clinics (Sao Paulo) 61:59-70. 2006
    ....
  29. ncbi Polymorphisms in RET and its coreceptors and ligands as genetic modifiers of multiple endocrine neoplasia type 2A
    Fabienne Lesueur
    Strangeways Research Laboratory, Cancer Research UK Department of Oncology, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Cancer Res 66:1177-80. 2006
    ..line missense mutations in the RET proto-oncogene are responsible for the inherited cancer syndrome multiple endocrine neoplasia type 2A (MEN2A)...
  30. ncbi Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A
    Mercedes Robledo
    Centro Nacional de Epidemiologia, Instituto de Salud Carlos III Centro Nacional de Investigaciones Oncológicas, Madrid, Spain
    Cancer Res 63:1814-7. 2003
    b>Multiple endocrine neoplasia type 2A (MEN 2A) is associated with specific germ-line missense mutations in the RET proto-oncogene...
  31. ncbi Germ-line mutations in nonsyndromic pheochromocytoma
    Hartmut P H Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
    N Engl J Med 346:1459-66. 2002
    ....
  32. ncbi RET proto-oncogene in the development of human cancer
    C Eng
    Department of Adult Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
    J Clin Oncol 17:380-93. 1999
    ..Whether the presence of somatic RET mutation is associated with a poor prognosis is currently being investigated as another tool for molecular medicine...
  33. doi Pheochromocytoma in MEN 2A syndrome. Study of 54 patients
    Jose M Rodriguez
    Endocrine Surgery Unit, Virgen de la Arrixaca University Hospital, 30120, Murcia, Spain
    World J Surg 32:2520-6. 2008
    ..The aim of this study is to present our experience with this unusual disease, looking for answers to some of these questions...
  34. pmc Gastrointestinal manifestations of multiple endocrine neoplasia type 2
    Mark S Cohen
    Department of Surgery, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Ann Surg 235:648-54; discussion 654-5. 2002
    ..To determine the clinical features, natural history, and role of surgery for gastrointestinal manifestations of the multiple endocrine neoplasia type 2 (MEN 2) syndromes...
  35. doi Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations
    Rebecca L Margraf
    ARUP Institute for Clinical and Experimental Pathology R, Salt Lake City, Utah 84108, USA
    Hum Mutat 30:548-56. 2009
    ..The MEN2 RET database (www.arup.utah.edu/database/MEN2/MEN2_welcome.php) will serve as a repository for MEN2-associated RET sequence variation and reference for RET genotype/MEN2 phenotype correlations...
  36. ncbi Germline RET V804M mutation associated with multiple endocrine neoplasia type 2A
    H Gibelin
    Department of Endocrine Surgery, Jean Bernard Hospital, Poitiers, France
    Br J Surg 91:1458-9. 2004
  37. pmc The neuron-specific Rai (ShcC) adaptor protein inhibits apoptosis by coupling Ret to the phosphatidylinositol 3-kinase/Akt signaling pathway
    Giuliana Pelicci
    Department of Experimental Oncology, European Institute of Oncology, 20141 Milan, Italy
    Mol Cell Biol 22:7351-63. 2002
    ..Phosphorylated Rai, however, was not found in complexes with Grb2. We propose that Rai potentiates the MAPK and PI3K signaling pathways and regulates Ret-dependent and -independent survival signals...
  38. ncbi [Multiple endocrine neoplasia: a clinical model for applying molecular genetic techniques]
    N Wohllk
    Departamento de Medicina, Hospital del Salvador, Santiago de Chile
    Rev Med Chil 128:791-800. 2000
    ..Some cases of sporadic MTC are actually MEN 2A or Familial MTC after c-Ret testing is done, therefore routine application of this test is recommended in all cases of apparent sporadic MTC...
  39. doi Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET
    S W Moore
    Faculty of Health Sciences, University of Stellenbosch, 7505, Tygerberg, South Africa
    Pediatr Surg Int 24:521-30. 2008
    ..The future appears full of promise and the current evaluation of RET-targeting tyrosine kinase and other inhibitors are of considerable interest in the management of these conditions...
  40. doi Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation
    Sam W Moore
    Division of Paediatric Surgery, Faculty of Health Sciences, University of Stellenbosch, PO Box 19063, Tygerberg 7505, South Africa
    J Pediatr Surg 45:393-6. 2010
    ..Specifically, HSCR-MEN2 cosegregation mostly relates to the cysteine-rich area at the RET-620 (the "Janus gene")...
  41. doi The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A
    Klaus Martin Schulte
    Department of Endocrine Surgery, King s College Hospital, Denmark Hill, London SE5 9RS, United Kingdom
    J Clin Endocrinol Metab 95:E92-7. 2010
    ..A strong genotype-phenotype correlation results in major implications for the clinical approach. More information on less common mutations is needed to advance specific guidance...
  42. ncbi Allelic imbalance of the mutant and wild-type RET allele in MEN 2A-associated medullary thyroid carcinoma
    C A Koch
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Disease NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    Oncogene 20:7809-11. 2001
    ..Taken together, our results suggest allelic imbalance between mutated and wild-type RET as a possible mechanism for tumor formation in some patients with MEN 2A-related MTC...
  43. ncbi RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B
    Yulin Zhou
    Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Ruijin Hospital, Jiao Tong University, Shanghai
    Clin Endocrinol (Oxf) 67:570-6. 2007
    ..caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene, which includes multiple endocrine neoplasia type 2A (MEN2A), type 2B (MEN 2B), and familial medullary thyroid carcinoma (FMTC)...
  44. doi A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization
    Maria D Castellone
    Istituto di Endocrinologia ed Oncologia Sperimentale G Salvatore, CNR, Dipartimento di Biologia e Patologia Cellulare e Molecolare, L Califano, Universita Federico II, Napoli, Italy
    Clin Endocrinol (Oxf) 73:529-34. 2010
    ..In multiple endocrine neoplasia (MEN), rearranged during transfection (RET), gene testing has been extensively exploited to characterize tumour aggressiveness and optimize the diagnostic and clinical management...
  45. ncbi Repair by Src kinase of function-impaired RET with multiple endocrine neoplasia type 2A mutation with substitutions of tyrosines in the COOH-terminal kinase domain for phenylalanine
    Masashi Kato
    Department of Immunology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, Aichi 466 8550, Japan
    Cancer Res 62:2414-22. 2002
    ..Finally, endogenous c-Src was shown to promote Y905 phosphorylation of the Y981F mutant in vivo. These results reveal a novel Src kinase-mediated repair mechanism of otherwise function-impaired mutant RET kinases...
  46. ncbi Tissue-specific carcinogenesis in transgenic mice expressing the RET proto-oncogene with a multiple endocrine neoplasia type 2A mutation
    K Kawai
    Department of Pathology, Nagoya University School of Medicine, Japan
    Cancer Res 60:5254-60. 2000
    Germ line mutations of the RET proto-oncogene are responsible for the development of multiple endocrine neoplasia type 2A (MEN 2A), an inherited cancer syndrome characterized by medullary thyroid carcinoma, pheochromocytoma, and ..
  47. ncbi Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B
    M Santoro
    Centro di Endocrinologia ed Oncologia Sperimentale, Consiglio Nazionale delle Ricerche CNR, Napoli, Italy
    Science 267:381-3. 1995
    ..Oncogenic conversion of RET in these neoplastic syndromes establishes germline transmission of dominant transforming genes in human cancer...
  48. ncbi Evidence of MEN-2 in the original description of classic pheochromocytoma
    Hartmut P H Neumann
    Department of Nephrology, University of Freiburg Medical Center, Freiburg im Breisgau, Germany
    N Engl J Med 357:1311-5. 2007
    ..The presence of germ-line RET mutations in four living relatives demonstrates that the original patient and her family had multiple endocrine neoplasia type 2 and provides molecular evidence that she had pheochromocytoma...
  49. ncbi RET mutations in exons 13 and 14 of FMTC patients
    A Bolino
    Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
    Oncogene 10:2415-9. 1995
    ..tyrosine kinase gene which is responsible for three different inherited cancer syndromes namely multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC) as well as for ..
  50. ncbi Multiple endocrine neoplasia syndrome: genetic basis for clinical management
    Tobias Carling
    Department of Surgery, Yale University School of Medicine, New Haven, CT 06510, USA
    Curr Opin Oncol 17:7-12. 2005
    ..Improved understanding of the molecular and clinical genetics associated with these lesions will likely enhance the diagnosis and treatment of patients with these diseases...
  51. ncbi RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor
    Ivan Plaza Menacho
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Cancer Res 65:1729-37. 2005
    ..Distinct activating RET mutations cause multiple endocrine neoplasia type 2A (MEN2A), type 2B (MEN2B), and familial medullary thyroid carcinoma (FMTC)...
  52. doi Multiple endocrine neoplasia type 2
    Nelson Wohllk
    Department of Endocrinology, Hospital del Salvador, Universidad de Chile, Chile, Rancagua 835, Providencia Santiago de Chile
    Best Pract Res Clin Endocrinol Metab 24:371-87. 2010
    ..Registry-based follow-up should be mandatory including documentation of short- and long-term outcome in order to provide valid data for future counselling of patients with MEN 2...
  53. ncbi Increased in vivo phosphorylation of ret tyrosine 1062 is a potential pathogenetic mechanism of multiple endocrine neoplasia type 2B
    D Salvatore
    Centro di Endocrinologia ed Oncologia Sperimentale del CNR, , Italy
    Cancer Res 61:1426-31. 2001
    ..The more efficient triggering of these pathways may account for the difference between MEN2A and MEN2B syndromes...
  54. ncbi Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma
    Deborah J Marsh
    Cancer Genetics, Kolling Institute of Medical Research, and Pacific Laboratory Medicine Services, Royal North Shore Hospital, St Leonards, New South Wales 2065, Australia
    J Clin Endocrinol Metab 88:1866-72. 2003
    ..Chromosomal imbalances in the MTC cell line TT were largely identical to those identified in primary MTC tumors, consolidating its use as a model for studying MTC...
  55. ncbi Hyperparathyroidism and multiple endocrine neoplasia
    James P Malone
    Division of Otolaryngology Head and Neck Surgery, Southern Illinois University School of Medicine, 301 N 8th Street, Room 5B506, Springfield, IL 62701, USA
    Otolaryngol Clin North Am 37:715-36, viii. 2004
    ..Long-term follow-up reveals a high rate of recurrent hyperparathyroidism in MEN 1 despite surgical intervention...
  56. ncbi Cellular effects of imatinib on medullary thyroid cancer cells harboring multiple endocrine neoplasia Type 2A and 2B associated RET mutations
    J W B de Groot
    Department of Surgical Oncology, University Medical Center Groningen, Groningen, The Netherlands
    Surgery 139:806-14. 2006
    ....
  57. ncbi Clinical case seminar: in vivo and in vitro characterization of a novel germline RET mutation associated with low-penetrant nonaggressive familial medullary thyroid carcinoma
    Leonardo D'Aloiso
    Unit of Endocrinology and Division of Anatomic Pathology, Istituto di Ricovero e Cura a Carattere Scientifico Csa Sollievo della Sofferenza Hospital, Foggia, Italy
    J Clin Endocrinol Metab 91:754-9. 2006
    ..RET mutation analysis provides useful information on the clinical outcome of medullary thyroid carcinomas (MTCs) and the risk of disease in the family members...
  58. ncbi Multiple endocrine neoplasia type 2A/localized cutaneous lichen amyloidosis associated with malignant pheochromocytoma and ganglioneuroma
    S Gullu
    Department of Endocrinology and Metabolism, University of Ankara Medical School, Ankara, Turkey
    J Endocrinol Invest 28:734-7. 2005
    We hereby present a rare variant of multiple endocrine neoplasia type 2A (MEN2A) associated with a rare skin disease primary cutaneous lichen amyloidosis and discrete malignant pheochromocytoma in both adrenal glands and pancreatic tail, ..
  59. ncbi Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A
    Michael A Skinner
    Department of Surgery, Duke University School of Medicine, Durham, NC, USA
    N Engl J Med 353:1105-13. 2005
    ..We sought to determine whether total thyroidectomy in asymptomatic young members of kindreds with MEN-2A who had a mutated allele of the RET proto-oncogene could prevent or cure medullary thyroid carcinoma...
  60. ncbi Localization of medullary thyroid carcinoma metastasis in a multiple endocrine neoplasia type 2A patient by 6-[18F]-fluorodopamine positron emission tomography
    Loukas Gourgiotis
    Clinical Endocrinology Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, 20892, USA
    J Clin Endocrinol Metab 88:637-41. 2003
    ..Here, we report the case of a 42-yr-old woman with multiple endocrine neoplasia type 2A, in whom biopsy-proven recurrent medullary thyroid cancer (MTC) was detected by 6-[(18)F]..
  61. doi Multiple endocrine neoplasia type 2: an overview
    Jessica Moline
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Genet Med 13:755-64. 2011
    ..b>Multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and multiple endocrine neoplasia type 2B are collectively ..
  62. ncbi Self-association of the transmembrane domain of RET underlies oncogenic activation by MEN2A mutations
    S Kjaer
    Department of Neuroscience, Division of Molecular Neurobiology, Karolinska Institute, Stockholm, Sweden
    Oncogene 25:7086-95. 2006
    ....
  63. ncbi Molecular advances in medullary thyroid cancer diagnostics
    Richard A Hubner
    Institute of Cancer Research, Cancer Genetics, 15 Cotswold Road, Sutton, SM2 5NG, United Kingdom
    Clin Chim Acta 370:2-8. 2006
    ..Mutation analysis of RET in individuals with MEN2 has identified a number of different mutations, and correlation with cancer biology and clinical outcome has led to tailoring of management according to the mutation detected...
  64. ncbi A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease
    Sarka Dvorakova
    Department of Molecular Endocrinology, Institute of Endocrinology, Prague 11694, Czech Republic
    J Pediatr Surg 40:e1-6. 2005
    ..Inactivating germline mutations in the RET proto-oncogene are detected in Hirschsprung's disease (HSCR). Only in a very small number of families are these 2 diseases expressed together...
  65. ncbi [Genetic screening of multiple endocrine neoplasia type 2: experience of the USP Endocrine Genetics Unit]
    Marcelo A C G dos Santos
    Unidade de Endocrinologia Genética, Clinica Medica, Faculdade de Medicina, Universidade de Sao Paulo, SP
    Arq Bras Endocrinol Metabol 50:7-16. 2006
    ..In 50 typical MEN-2 patients analyzed using both methods, we found no false results suggesting that DGGE is a reliable screening method for RET proto-oncogene mutation analysis...
  66. ncbi Multiple endocrine neoplasia 2A syndrome: Surgical management
    S Simon
    Department of Paediatric Surgery, Surgical Clinic of the Friedrich Alexander Universität Erlangen, Erlangen, Germany
    J Pediatr Surg 37:897-900. 2002
    ....
  67. ncbi Occurrence of pheochromocytoma in a MEN2A family with codon 609 mutation of the RET proto-oncogene
    Peter Igaz
    J Clin Endocrinol Metab 87:2994. 2002
  68. doi Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism
    Maria Grazia Borrello
    Operative Unit Molecular Mechanisms, Department of Experimental Oncology, IRCCS Istituto Nazionale dei Tumori Foundation, Milan, Italy
    Endocr Relat Cancer 18:519-27. 2011
    ..We have demonstrated that, although RET-G691S is not oncogenic per se, it enhances the transforming activity of the RET-K666E mutant, thus suggesting a modifier role for this functional polymorphism...
  69. ncbi [Prophylactic thyroid surgery]
    A Frilling
    Klinik fUr Allgemein, Viszeral und Transplantationschirurgie, Universitatsklinikum Essen
    Chirurg 77:6-14. 2006
    ..Although genetic research on hereditary nonmedullary thyroid cancer is still in progress, initial results indicate the need of prophylactic surgical treatment also for this subgroup of thyroid neoplasia...
  70. doi Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation
    Caterina Mian
    Endocrinology Unit, University of Padua, Padua, Italy
    Fam Cancer 8:379-82. 2009
    ..In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism...
  71. doi RET-mediated gene expression pattern is affected by isoform but not oncogenic mutation
    Jessica G Hickey
    Division of Cancer Biology and Genetics, Cancer Research Institute Queen s University, Kingston, ON, Canada, K7L 3N6
    Genes Chromosomes Cancer 48:429-40. 2009
    ..Our data suggest that similar transcriptional programs contribute to all forms of MEN 2 but that differences in target gene expression may contribute to developmental pattern differences observed between RET isoforms...
  72. ncbi RET proto-oncogene mutations affecting codon 790/791: A mild form of multiple endocrine neoplasia type 2A syndrome?
    Oliver Gimm
    Department of General, Visceral, and Vascular Surgery, Martin Luther University Halle Wittenberg, Ernst Grube Strasse 40, 06097 Halle, Germany
    Surgery 132:952-9; discussion 959. 2002
    In patients with multiple endocrine neoplasia type 2A syndrome, prophylactic thyroidectomy is generally recommended at the age of 5 to 6 years. Whether this recommendation is justified for exon 13 mutations is unknown.
  73. doi Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene
    Melpomeni Peppa
    Endocrine Unit, Athens University Medical School, Research Institute and Diabetes Center, Attikon University Hospital, 1 Rimini Street, 12462 Athens, Greece
    Eur J Endocrinol 159:767-71. 2008
    b>Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant hereditary disorder, associated with a cluster of germline gain-of-function mutations of the RET proto-oncogene (RET), mainly in exons 10-15...
  74. ncbi Review of multiple endocrine neoplasia type 2A in children: therapeutic results of early thyroidectomy and prognostic value of codon analysis
    Gabor Szinnai
    Department of Pediatric Endocrinology, University Children s Hospital, Basel, Switzerland
    Pediatrics 111:E132-9. 2003
    ..medullary thyroid carcinoma with persistent or recurrent disease (PRD) in pediatric patients with multiple endocrine neoplasia type 2A (MEN-2A) and second, to evaluate the strength of codon analysis in children with MEN-2A as ..
  75. ncbi Germline RET 634 mutation positive MEN 2A-related C-cell hyperplasias have genetic features consistent with intraepithelial neoplasia
    S J Diaz-Cano
    Department of Pathology, Tufts University New England Medical Center, Boston, Massachusetts 02111, USA
    J Clin Endocrinol Metab 86:3948-57. 2001
    C-cell hyperplasias are normally multifocal in multiple endocrine neoplasia type 2A. We compared clonality, microsatellite pattern of tumor suppressor genes, and cellular kinetics of C-cell hyperplasia foci in each thyroid lobe...
  76. doi Primary hyperparathyroidism as the first clinical manifestation of multiple endocrine neoplasia type 2A in a 5-year-old child
    Patrícia Künzle Ribeiro Magalhães
    Division of Endocrinology and Metabolism, Department of Internal Medicine, University of Sao Paulo, Ribeirao Preto, Brazil
    Thyroid 21:547-50. 2011
    Primary hyperparathyroidism occurs in only 10%-30% of patients with multiple endocrine neoplasia type 2A (MEN2A), rarely as the sole clinical manifestation, and is usually diagnosed after the third decade of life.
  77. ncbi RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease
    Barbara Pasini
    Department of Biomedical Sciences and Advanced Therapies, Section of Endocrinology, University of Ferrara, Via Savonarola 9, I 44100 Ferrara, Italy
    Surgery 131:373-81. 2002
    ..Furthermore, we have investigated polymorphic sequence variants of the RET proto-oncogene...
  78. ncbi Prophylactic thyroidectomy in pediatric carriers of multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma: mutation in C620 is associated with Hirschsprung's disease
    Andreana Butter
    Division of Pediatric Surgery, Sainte Justine Hospital, Montreal, Quebec, Canada, H3T 1C5
    J Pediatr Surg 42:203-6. 2007
    ..We reviewed our experience to determine the incidence of medullary thyroid carcinoma with respect to age at surgery, the location of the mutation, and its association with Hirschsprung's disease (HD)...
  79. ncbi A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma
    Adriana B Nunes
    Endocrine Genetics Unit, Department of Endocrinology, University of Sao Paulo School of Medicine, 01246 903 Sao Paulo, Brazil
    J Clin Endocrinol Metab 87:5658-61. 2002
    ..Both RET variants were present in the father affected with MEN 2A and the unusual ACTH-producing pheochromocytoma. We speculate that the double RET mutation may have modified and contributed to the rare MEN 2A phenotype in the father...
  80. ncbi Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a
    T Kahraman
    Department of Surgical Oncology Head and Neck Surgery, University Hospital Groningen, Groningen, The Netherlands
    Eur J Surg Oncol 29:331-5. 2003
    ..Literature regarding the risk and the extent of early surgical intervention is scarce and the optimum age for surgery is still controversial. To optimize management in these young children we evaluate our experience and results...
  81. ncbi A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene
    A Tessitore
    Dipartimento di Biochimica e Biotecnologie Mediche e Ceinge, Centro di Ingegneria Genetica, Universita degli Studi di Napoli Federico II, Italy
    J Clin Endocrinol Metab 84:3522-7. 1999
    We report a novel case of multiple endocrine neoplasia type 2A (MEN 2A) associated with two mutations of the protooncogene RET...
  82. ncbi A RET double mutation in the germline of a kindred with FMTC
    D K Bartsch
    Department of Surgery, Philipps University of Marburg, Germany
    Exp Clin Endocrinol Diabetes 108:128-32. 2000
    Activating germline mutations of the RET proto-oncogene are found in more than 90% of families with multiple endocrine neoplasia type 2a (MEN 2a) and familial medullary thyroid carcinoma (FMTC)...
  83. ncbi Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome
    M Poturnajova
    Laboratory of Molecular Oncology, Cancer Research Institute SAS, Vlarska 7, 83391 Bratislava, Slovakia
    J Mol Med (Berl) 83:287-95. 2005
    ..The observed allelic imbalance in favor of mutated allele in pheochromocytoma corresponded to higher expression of the RET gene. These observations confirm the multifactorial process leading to development of MEN 2A syndrome...
  84. ncbi Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II
    H P Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University of Freiburg, Germany
    JAMA 274:1149-51. 1995
    ....
  85. ncbi RET germline mutation in codon 791 in a family representing 3 generations from age 5 to age 70 years: should thyroidectomy be performed?
    Volker F H Brauer
    Department of Endocrinology and Nephrology, University of Leipzig, Leipzig, Germany
    Endocr Pract 10:5-9. 2004
    ..To describe a kindred with a rare RET germline mutation in codon 791 and discuss potential management strategies...
  86. ncbi Germline homozygous mutations at codon 804 in the RET protooncogene in medullary thyroid carcinoma/multiple endocrine neoplasia type 2A patients
    F Lesueur
    Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, United Kingdom
    J Clin Endocrinol Metab 90:3454-7. 2005
    ..The activity and (in the case of somatic mutations) timing of these other genetic alterations in the RET gene may explain the wide clinical variability associated with germline mutations at codon 804...
  87. ncbi A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A
    Sotirios Bethanis
    Department of Endocrinology, Athens Polyclinic, Athens, Greece
    Hormones (Athens) 6:152-6. 2007
    b>Multiple endocrine neoplasia type 2A (MEN2A) is a syndrome of familial neoplasias characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperplasia of the parathyroid glands...
  88. ncbi [Prophylactic thyroidectomy in children who are carriers of a multiple endocrine neoplasia type 2 mutation: description of 20 cases and recommendations based on the literature]
    J W B de Groot
    Afd Heelkunde en Endocrinologie, Universitair Medisch Centrum Groningen, Postbus 30 001, 9700 RB Groningen
    Ned Tijdschr Geneeskd 150:311-8. 2006
    ..Evaluation of treatment of children who are proven carriers of a multiple endocrine neoplasia type 2 (MEN 2)-associated rearranged during transfection (RET) gene mutation...
  89. ncbi Surgical treatment of medullary thyroid carcinoma
    M S Cohen
    Department of Surgery, Washington University School of Medicine, St Louis, MO, USA
    J Intern Med 253:616-26. 2003
    ..Surgical reoperation or conservative observation are the best available options. Diagnostic laparoscopy for liver evaluation is the most sensitive diagnostic test to detect the presence of distant metastases...
  90. ncbi Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation
    Vassos Neocleous
    Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Genet Test 8:163-8. 2004
    Germ-line mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma (FMTC)...
  91. ncbi Cellular effects and antitumor activity of RET inhibitor RPI-1 on MEN2A-associated medullary thyroid carcinoma
    Giuditta Cuccuru
    Preclinical Chemotherapy and Pharmacology Unit, and Nuclear Medicine Unit, Istituto Nazionale Tumori, Milan, Italy
    J Natl Cancer Inst 96:1006-14. 2004
    ..Medullary thyroid carcinoma is a component of multiple endocrine neoplasia type 2 or MEN2 syndromes...
  92. ncbi Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618
    S Lindskog
    Department of Surgery, Varberg Hospital, Varberg, Sweden
    Br J Surg 91:713-8. 2004
    b>Multiple endocrine neoplasia type 2A (MEN2A) is caused by missense mutations in the RET proto-oncogene on chromosome 10...
  93. ncbi Malignant progression from C-cell hyperplasia to medullary thyroid carcinoma in 167 carriers of RET germline mutations
    Andreas Machens
    Department of General, Visceral and Vascular Surgery, Martin Luther University, Halle Wittenberg, Halle Saale, Germany
    Surgery 134:425-31. 2003
    ..The study objective was to investigate the impact of RET genotype on disease progression from C-cell hyperplasia (CCH) to MTC...
  94. ncbi Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma
    Andreas Machens
    Department of General, Visceral and Vascular Surgery, Martin Luther University Halle Wittenberg, Ernst Grube Str 40, D 06097, Halle Saale, Germany
    World J Surg 31:957-68. 2007
    ..A comprehensive appraisal of this body of evidence using evidence-based methodology is pending...
  95. ncbi Multiple endocrine neoplasia type 2A: an unusual clinical presentation and association with renal dysplasia
    Elizabeth McIntyre
    Endocrine Unit, Freeman Hospital, Newcastle upon Tyne, UK
    Cancer Genet Cytogenet 141:157-9. 2003
    We report what we believe to be the first case of a patient with multiple endocrine neoplasia type 2A (MEN 2A) and renal dysplasia associated with an RET 634 mutation...
  96. ncbi Genetic analysis of RET, GFR alpha 1 and GDNF genes in Spanish families with multiple endocrine neoplasia type 2A
    Laura Gil
    Unidad de Biologia Celular, Centro Nacional de Biologia Fundamental, Instituto de Salud Carlos III, Madrid, Spain
    Int J Cancer 99:299-304. 2002
    b>Multiple endocrine neoplasia type 2A (MEN 2A) is associated with specific germline missense mutations in the RET proto-oncogene...
  97. ncbi Amplification and overexpression of mutant RET in multiple endocrine neoplasia type 2-associated medullary thyroid carcinoma
    Steve C Huang
    Molecular Pathogenesis Unit, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 88:459-63. 2003
    ..These findings provide evidence for a third second hit mechanism resulting in overrepresentation and overexpression of mutant RET in MEN 2-associated tumors...
  98. ncbi Molecular pathogenesis of MEN2-associated tumors
    Christian A Koch
    University of Leipzig, Philipp Rosenthalstr 27, 04103, Leipzig, Germany
    Fam Cancer 4:3-7. 2005
    ..g. codon specific recommendations for prophylactic thyroidectomy) and treatment program, especially for metastatic medullary thyroid carcinoma for which presently no effective therapy other than surgery exists...
  99. ncbi Multiple endocrine neoplasia type 2
    Mariola Peczkowska
    Department of Hypertension, National Institute of Cardiology, Warsaw, Poland
    Fam Cancer 4:25-36. 2005
    ..Introduced in recent years and still developing genetic testing of individuals at highest hereditary risk of MEN 2 syndrome holds the possibility of early detection and improved treatment and prognosis...
  100. ncbi Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma
    Christian A Koch
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Disease NICHD, National Institutes of Health NIH, Bethesda, Maryland, MD 20892, USA
    Oncogene 21:479-82. 2002
    ..The remaining tumor did show LOH but not mutation of the VHL gene. These results suggest that somatic genetic alterations of the VHL gene may play a role in the tumorigenesis of some MEN 2A-related pheochromocytomas...
  101. ncbi Loss of heterozygosity at the RET protooncogene locus in a case of multiple endocrine neoplasia type 2A
    L Quadro
    Dipartimento di Biochimica e Biotecnologie Mediche and CEINGE Centro di Ingegneria Genetica, , , 80131 Naples, Italy
    J Clin Endocrinol Metab 86:239-44. 2001
    We describe a patient affected by multiple endocrine neoplasia type 2A (MEN 2A) bearing a heterozygous germline mutation (Cys(634)Arg) in exon 11 and an additional somatic mutation of the RET protooncogene...

Research Grants26

  1. Regulation of Receptor Tyrosine Kinases
    Daniel Donoghue; Fiscal Year: 2005
    ..Mutations in the extracellular juxtamembrane domain of RET cause multiple endocrine neoplasia type 2A (MEN2A) and familial medullary thyroid carcinoma (FMTC), whereas mutations in the intracellular ..
  2. EDRN: Clinical Epidemiology & Validation Centers
    Henry Lynch; Fiscal Year: 2007
    ..b. a study to evaluate the acceptability of hypothetical biomarkers among high risk and average risk individuals and primary health care providers. ..
  3. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2004
    ....
  4. CORE--MOLECULAR PATHOLOGY
    Ronald Delellis; Fiscal Year: 2002
    ..core abstract not provided ..