SEARCH

SEARCH BY CITATION

REFERENCES

  • 1
    Moline J, Eng C. Multiple endocrine neoplasia type 2: An overview. Genet Med. 2011.
  • 2
    Frankel F. Ein Fall von doppelseitigem, völlig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veränderungen am Circulationsapparat und Retinitis. Arch Pathol Anat Physiol Klin Med. 1886;103:244-263.
  • 3
    Neumann HP, Vortmeyer A, Schmidt D, et al. Evidence of MEN-2 in the original description of classic pheochromocytoma. N Engl J Med. 2007;357:1311-1315.
  • 4
    Steiner AL, Goodman AD, Powers SR. Study of a kindred with pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism and Cushing's disease: multiple endocrine neoplasia, type 2. Medicine (Baltimore). 1968;47:371-409.
  • 5
    Sizemore GW, Health H, 3rd, Carney JA. Multiple endocrine neoplasia type 2. Clin Endocrinol Metab. 1980;9:299-315.
  • 6
    Howe JR, Norton JA, Wells SA, Jr. Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up. Surgery. 1993;114:1070-1077.
  • 7
    Norton JA, Froome LC, Farrell RE, Wells SA, Jr. Multiple endocrine neoplasia type IIb: the most aggressive form of medullary thyroid carcinoma. Surg Clin North Am. 1979;59:109-118.
  • 8
    Carney JA, Go VL, Sizemore GW, Hayles AB. Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b. N Engl J Med. 1976;295:1287-1291.
  • 9
    Farndon JR, Leight GS, Dilley WG, et al. Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Br J Surg. 1986;73:278-281.
  • 10
    Takahashi M, Ritz J, Cooper GM. Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell. 1985;42:581-588.
  • 11
    Durbec P, Marcos-Gutierrez CV, Kilkenny C, et al. GDNF signalling through the Ret receptor tyrosine kinase. Nature. 1996;381:789-793.
  • 12
    Robertson K, Mason I. The GDNF-RET signalling partnership. Trends Genet. 1997;13:1-3.
  • 13
    Nosrat CA, Tomac A, Hoffer BJ, Olson L. Cellular and developmental patterns of expression of Ret and glial cell line-derived neurotrophic factor receptor alpha mRNAs. Exp Brain Res. 1997;115:410-422.
  • 14
    Trupp M, Arenas E, Fainzilber M, et al. Functional receptor for GDNF encoded by the c-ret proto-oncogene. Nature. 1996;381:785-789.
  • 15
    Wells SA, Jr., Santoro M. Targeting the RET pathway in thyroid cancer. Clin Cancer Res. 2009;15:7119-7123.
  • 16
    Jing S, Wen D, Yu Y, et al. GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF. Cell. 1996;85:1113-1124.
  • 17
    Golden JP, Hoshi M, Nassar MA, et al. RET signaling is required for survival and normal function of nonpeptidergic nociceptors. J Neurosci. 2010;30:3983-3994.
  • 18
    Tee JB, Choi Y, Shah MM, et al. Protein kinase A regulates GDNF/RET-dependent but not GDNF/Ret-independent ureteric bud outgrowth from the Wolffian duct. Dev Biol. 2010;347:337-347.
  • 19
    Ryu H, Jeon GS, Cashman NR, Kowall NW, Lee J. Differential expression of c-Ret in motor neurons versus non-neuronal cells is linked to the pathogenesis of ALS. Lab Invest. 2011;91:342-352.
  • 20
    Ohgami N, Ida-Eto M, Sakashita N, et al. Partial impairment of c-Ret at tyrosine 1062 accelerates age-related hearing loss in mice. Neurobiol Aging. 2011.
  • 21
    Pachnis V, Mankoo B, Costantini F. Expression of the c-ret proto-oncogene during mouse embryogenesis. Development. 1993;119:1005-1017.
  • 22
    Moore SW, Zaahl MG. Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET. Pediatr Surg Int. 2008;24:521-530.
  • 23
    Reginensi A, Clarkson M, Neirijnck Y, et al. SOX9 controls epithelial branching by activating RET effector genes during kidney development. Hum Mol Genet. 2011;20:1143-1153.
  • 24
    Brantley MA, Jr., Jain S, Barr EE, Johnson EM, Jr., Milbrandt J. Neurturin-mediated ret activation is required for retinal function. J Neurosci. 2008;28:4123-4135.
  • 25
    Schuchardt A, D'Agati V, Larsson-Blomberg L, Costantini F, Pachnis V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature. 1994;367:380-383.
  • 26
    Schuchardt A, D'Agati V, Larsson-Blomberg L, Costantini F, Pachnis V. RET-deficient mice: an animal model for Hirschsprung's disease and renal agenesis. J Intern Med. 1995;238:327-332.
  • 27
    Rungby J. [RET, a gene responsible for familial endocrine neoplasias and Hirschsprung disease]. Ugeskr Laeger. 1994;156:3194.
  • 28
    Lyonnet S, Edery P, Mulligan LM, et al. [Mutations of RET proto-oncogene in Hirschsprung disease]. C R Acad Sci III. 1994;317:358-362.
  • 29
    Edery P, Lyonnet S, Mulligan LM, et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature. 1994;367:378-380.
  • 30
    Romeo G, Ronchetto P, Luo Y, et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature. 1994;367:377-378.
  • 31
    Smith DP, Eng C, Ponder BA. Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes and Hirschsprung disease. J Cell Sci Suppl. 1994;18:43-49.
  • 32
    Attie T, Edery P, Lyonnet S, Nihoul-Fekete C, Munnich A. [Identification of mutation of RET proto-oncogene in Hirschsprung disease]. C R Seances Soc Biol Fil. 1994;188:499-504.
  • 33
    Jeanpierre C, Mace G, Parisot M, et al. RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. J Med Genet. 2011;48:497-504.
  • 34
    Jain S. The many faces of RET dysfunction in kidney. Organogenesis. 2009;5:177-190.
  • 35
    Skinner MA, Safford SD, Reeves JG, Jackson ME, Freemerman AJ. Renal aplasia in humans is associated with RET mutations. Am J Hum Genet. 2008;82:344-351.
  • 36
    Gestblom C, Sweetser DA, Doggett B, Kapur RP. Sympathoadrenal hyperplasia causes renal malformations in Ret(MEN2B)-transgenic mice. Am J Pathol. 1999;155:2167-2179.
  • 37
    Schuchardt A, D'Agati V, Pachnis V, Costantini F. Renal agenesis and hypodysplasia in ret-k- mutant mice result from defects in ureteric bud development. Development. 1996;122:1919-1929.
  • 38
    Mathew CG, Chin KS, Easton DF, et al. A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature. 1987;328:527-528.
  • 39
    Simpson NE, Kidd KK, Goodfellow PJ, et al. Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature. 1987;328:528-530.
  • 40
    Santoro M, Rosati R, Grieco M, et al. The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. Oncogene. 1990;5:1595-1598.
  • 41
    Donis-Keller H, Dou S, Chi D, et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet. 1993;2:851-856.
  • 42
    Mulligan LM, Kwok JB, Healey CS, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 1993;363:458-460.
  • 43
    Hofstra RM, Landsvater RM, Ceccherini I, et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature. 1994;367:375-376.
  • 44
    Carlson KM, Dou S, Chi D, et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci U S A. 1994;91:1579-1583.
  • 45
    Santoro M, Carlomagno F, Romano A, et al. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science. 1995;267:381-383.
  • 46
    Elisei R, Cosci B, Romei C, et al. Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. J Clin Endocrinol Metab. 2008;93:682-687.
  • 47
    Lodish MB, Stratakis CA. RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer. Expert Rev Anticancer Ther. 2008;8:625-632.
  • 48
    Montero-Conde C, Martin-Campos JM, Lerma E, et al. Molecular profiling related to poor prognosis in thyroid carcinoma. Combining gene expression data and biological information. Oncogene. 2008;27:1554-1561.
  • 49
    Harvey M, Vogel H, Lee EY, Bradley A, Donehower LA. Mice deficient in both p53 and Rb develop tumors primarily of endocrine origin. Cancer Res. 1995;55:1146-1151.
  • 50
    Coxon AB, Ward JM, Geradts J, Otterson GA, Zajac-Kaye M, Kaye FJ. RET cooperates with RB/p53 inactivation in a somatic multi-step model for murine thyroid cancer. Oncogene. 1998;17:1625-1628.
  • 51
    Ziebold U, Lee EY, Bronson RT, Lees JA. E2F3 loss has opposing effects on different pRB-deficient tumors, resulting in suppression of pituitary tumors but metastasis of medullary thyroid carcinomas. Mol Cell Biol. 2003;23:6542-6552.
  • 52
    Cerrato A, De Falco V, Santoro M. Molecular genetics of medullary thyroid carcinoma: the quest for novel therapeutic targets. J Mol Endocrinol. 2009;43:143-155.
  • 53
    Nakagawa T, Mabry M, de Bustros A, Ihle JN, Nelkin BD, Baylin SB. Introduction of v-Ha-ras oncogene induces differentiation of cultured human medullary thyroid carcinoma cells. Proc Natl Acad Sci U S A. 1987;84:5923-5927.
  • 54
    Johnston D, Hatzis D, Sunday ME. Expression of v-Ha-ras driven by the calcitonin/calcitonin gene-related peptide promoter: a novel transgenic murine model for medullary thyroid carcinoma. Oncogene. 1998;16:167-177.
  • 55
    Smith-Hicks CL, Sizer KC, Powers JF, Tischler AS, Costantini F. C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B. EMBO J. 2000;19:612-622.
  • 56
    Cranston AN, Ponder BA. Modulation of medullary thyroid carcinoma penetrance suggests the presence of modifier genes in a RET transgenic mouse model. Cancer Res. 2003;63:4777-4780.
  • 57
    Lima J, Teixeira-Gomes J, Soares P, et al. Germline succinate dehydrogenase subunit D mutation segregating with familial non-RET C cell hyperplasia. J Clin Endocrinol Metab. 2003;88:4932-4937.
  • 58
    Mulligan LM. From genes to decisions. In: Farid NR, editor. Molecular Basis of Thyroid Cancer. New York: Kluwer Academic Publishers, 2005.
  • 59
    Copp DH, Cheney B. Calcitonin-a hormone from the parathyroid which lowers the calcium-level of the blood. Nature. 1962;193:381-382.
  • 60
    Hirsch PF, Voelkel EF, Munson PL. Thyrocalcitonin: Hypocalcemic Hypophosphatemic Principle of the Thyroid Gland. Science. 1964;146:412-413.
  • 61
    Melvin KE, Miller HH, Tashjian AH, Jr. Early diagnosis of medullary carcinoma of the thyroid gland by means of calcitonin assay. N Engl J Med. 1971;285:1115-1120.
  • 62
    Wells SA, Jr., Baylin SB, Linehan WM, Farrell RE, Cox EB, Cooper CW. Provocative agents and the diagnosis of medullary carcinoma of the thyroid gland. Ann Surg. 1978;188:139-141.
  • 63
    Unger K, Malisch E, Thomas G, et al. Array CGH demonstrates characteristic aberration signatures in human papillary thyroid carcinomas governed by RET/PTC. Oncogene. 2008;27:4592-4602.
  • 64
    Xue F, Yu H, Maurer LH, et al. Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. Hum Mol Genet. 1994;3:635-638.
  • 65
    Chi DD, Toshima K, Donis-Keller H, Wells SA, Jr. Predictive testing for multiple endocrine neoplasia type 2A (MEN 2A) based on the detection of mutations in the RET protooncogene. Surgery. 1994;116:124-132; discussion 132-123.
  • 66
    Pazaitou-Panayiotou K, Kaprara A, Sarika L, et al. Efficient testing of the RET gene by DHPLC analysis for MEN 2 syndrome in a cohort of patients. Anticancer Res. 2005;25:2091-2095.
  • 67
    Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001;86:5658-5671.
  • 68
    Raue F, Frank-Raue K. Update multiple endocrine neoplasia type 2. Fam Cancer. 2010;9:449-457.
  • 69
    Kloos RT, Eng C, Evans DB, et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009;19:565-612.
  • 70
    Chen H, Sippel RS, O'Dorisio MS, et al. The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. Pancreas. 2010;39:775-783.
  • 71
    Roman S, Lin R, Sosa JA. Prognosis of medullary thyroid carcinoma: demographic, clinical, and pathologic predictors of survival in 1252 cases. Cancer. 2006;107:2134-2142.
  • 72
    Frank-Raue K, Rondot S, Schulze E, Raue F. Change in the spectrum of RET mutations diagnosed between 1994 and 2006. Clin Lab. 2007;53:273-282.
  • 73
    Jasim S, Ying AK, Waguespack SG, et al. Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation. Thyroid. 2011;21:189-192.
  • 74
    Siqueira DR, Romitti M, da Rocha AP, et al. The RET polymorphic allele S836S is associated with early metastatic disease in patients with hereditary or sporadic medullary thyroid carcinoma. Endocr Relat Cancer. 2010;17:953-963.
  • 75
    Wells SA, Jr., Chi DD, Toshima K, et al. Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg. 1994;220:237-247; discussion 247-250.
  • 76
    Machens A, Niccoli-Sire P, Hoegel J, et al. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med. 2003;349:1517-1525.
  • 77
    Skinner MA, Moley JA, Dilley WG, Owzar K, Debenedetti MK, Wells SA, Jr. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med. 2005;353:1105-1113.
  • 78
    Frank-Raue K, Buhr H, Dralle H, et al. Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype. Eur J Endocrinol. 2006;155:229-236.
  • 79
    Schreinemakers JM, Vriens MR, Valk GD, et al. Factors predicting outcome of total thyroidectomy in young patients with multiple endocrine neoplasia type 2: a nationwide long-term follow-up study. World J Surg. 2010;34:852-860.
  • 80
    Shepet K, Alhefdhi A, Lai N, Mazeh H, Sippel R, Chen H. Hereditary medullary thyroid cancer: age-appropriate thyroidectomy improves disease-free survival. Ann Surg Oncol. 2013;20:1451-1455.
  • 81
    Brierley J, Tsang R, Simpson WJ, Gospodarowicz M, Sutcliffe S, Panzarella T. Medullary thyroid cancer: analyses of survival and prognostic factors and the role of radiation therapy in local control. Thyroid. 1996;6:305-310.
  • 82
    Cohen EE, Rosen LS, Vokes EE, et al. Axitinib is an active treatment for all histologic subtypes of advanced thyroid cancer: results from a phase II study. J Clin Oncol. 2008;26:4708-4713.
  • 83
    Schlumberger MJ, Elisei R, Bastholt L, et al. Phase II study of safety and efficacy of motesanib in patients with progressive or symptomatic, advanced or metastatic medullary thyroid cancer. J Clin Oncol. 2009;27:3794-3801.
  • 84
    Lam ET, Ringel MD, Kloos RT, et al. Phase II clinical trial of sorafenib in metastatic medullary thyroid cancer. J Clin Oncol. 2010;28:2323-2330.
  • 85
    Ravaud A, de la Fouchardiere C, Asselineau J, et al. Efficacy of sunitinib in advanced medullary thyroid carcinoma: intermediate results of phase II THYSU. Oncologist. 2010;15:212-213; author reply 214.
  • 86
    Kurzrock R, Patnaik A, Aisner J, et al. A phase I study of weekly R1507, a human monoclonal antibody insulin-like growth factor-I receptor antagonist, in patients with advanced solid tumors. Clin Cancer Res. 2010;16:2458-2465.
  • 87
    Wells SA, Jr., Robinson BG, Gagel RF, et al. Vandetanib in Patients With Locally Advanced or Metastatic Medullary Thyroid Cancer: A Randomized, Double-Blind Phase III Trial. J Clin Oncol. 2011.
  • 88
    Haddad RI. New developments in thyroid cancer. J Natl Compr Canc Netw. 2013;11:705-707.
  • 89
    Rodriguez-Antona C, Pallares J, Montero-Conde C, et al. Overexpression and activation of EGFR and VEGFR2 in medullary thyroid carcinomas is related to metastasis. Endocr Relat Cancer. 2010;17:7-16.
  • 90
    Wells SA, Jr., Robinson BG, Gagel RF, et al. Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: a randomized, double-blind phase III trial. J Clin Oncol. 2012;30:134-141.
  • 91
    Papotti M, Olivero M, Volante M, et al. Expression of Hepatocyte Growth Factor (HGF) and its Receptor (MET) in Medullary Carcinoma of the Thyroid. Endocr Pathol. 2000;11:19-30.
  • 92
    Soh EY, Duh QY, Sobhi SA, et al. Vascular endothelial growth factor expression is higher in differentiated thyroid cancer than in normal or benign thyroid. J Clin Endocrinol Metab. 1997;82:3741-3747.
  • 93
    Cassinelli G, Favini E, Degl'Innocenti D, et al. RET/PTC1-driven neoplastic transformation and proinvasive phenotype of human thyrocytes involve Met induction and beta-catenin nuclear translocation. Neoplasia. 2009;11:10-21.
  • 94
    Elisei R, Schlumberger MJ, Muller SP, et al. Cabozantinib in progressive medullary thyroid cancer. J Clin Oncol. 2013;31:3639-3646.
  • 95
    Ahmed M, Barbachano Y, Riddell A, et al. Analysis of the efficacy and toxicity of sorafenib in thyroid cancer: a phase II study in a UK based population. Eur J Endocrinol. 2011;165:315-322.
  • 96
    Schlumberger M JB, Cabanillas M, et al. A phase II trial of the multitargeted kinase inhibitor lenvatinib (E7080) in advanced medullary thyroid cancer (MTC). Annals of Surgical Oncology Annual Meeting, 2012.
  • 97
    Sippel RS, Kunnimalaiyaan M, Chen H. Current management of medullary thyroid cancer. Oncologist. 2008;13:539-547.
  • 98
    Kunnimalaiyaan M, Vaccaro AM, Ndiaye MA, Chen H. Inactivation of glycogen synthase kinase-3beta, a downstream target of the raf-1 pathway, is associated with growth suppression in medullary thyroid cancer cells. Mol Cancer Ther. 2007;6:1151-1158.
  • 99
    Kunnimalaiyaan M, Chen H. Tumor suppressor role of Notch-1 signaling in neuroendocrine tumors. Oncologist. 2007;12:535-542.
  • 100
    Kunnimalaiyaan M, Ndiaye M, Chen H. Apoptosis-mediated medullary thyroid cancer growth suppression by the PI3K inhibitor LY294002. Surgery. 2006;140:1009-1014; discussion 1014-1005.
  • 101
    Vaccaro A, Chen H, Kunnimalaiyaan M. In-vivo activation of Raf-1 inhibits tumor growth and development in a xenograft model of human medullary thyroid cancer. Anticancer Drugs. 2006;17:849-853.
  • 102
    Adler JT, Cook M, Luo Y, et al. Tautomycetin and tautomycin suppress the growth of medullary thyroid cancer cells via inhibition of glycogen synthase kinase-3beta. Mol Cancer Ther. 2009;8:914-920.
  • 103
    Adler JT, Hottinger DG, Kunnimalaiyaan M, Chen H. Inhibition of growth in medullary thyroid cancer cells with histone deacetylase inhibitors and lithium chloride. J Surg Res. 2010;159:640-644.
  • 104
    Cook MR, Luo J, Ndiaye M, Chen H, Kunnimalaiyaan M. Xanthohumol inhibits the neuroendocrine transcription factor achaete-scute complex-like 1, suppresses proliferation, and induces phosphorylated ERK1/2 in medullary thyroid cancer. Am J Surg. 2010;199:315-318; discussion 318.
  • 105
    Truong M, Cook MR, Pinchot SN, Kunnimalaiyaan M, Chen H. Resveratrol induces Notch2-mediated apoptosis and suppression of neuroendocrine markers in medullary thyroid cancer. Ann Surg Oncol. 2011;18:1506-1511.
  • 106
    Dvorakova S, Vaclavikova E, Duskova J, Vlcek P, Ryska A, Bendlova B. Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg. J Endocrinol Invest. 2005;28:905-909.
  • 107
    Ahmed SA, Snow-Bailey K, Highsmith WE, Sun W, Fenwick RG, Mao R. Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases. J Mol Diagn. 2005;7:283-288.
  • 108
    Pigny P, Bauters C, Wemeau JL, et al. A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. J Clin Endocrinol Metab. 1999;84:1700-1704.
  • 109
    Niccoli-Sire P, Murat A, Rohmer V, et al. When should thyroidectomy be performed in familial medullary thyroid carcinoma gene carriers with non-cysteine RET mutations? Surgery. 2003;134:1029-1036; discussion 1036-1027.
  • 110
    Fazioli F, Piccinini G, Appolloni G, et al. A new germline point mutation in Ret exon 8 (cys515ser) in a family with medullary thyroid carcinoma. Thyroid. 2008;18:775-782.
  • 111
    Da Silva AM, Maciel RM, Da Silva MR, Toledo SR, De Carvalho MB, Cerutti JM. A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. J Clin Endocrinol Metab. 2003;88:5438-5443.
  • 112
    Bethanis S, Koutsodontis G, Palouka T, et al. A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A. Hormones (Athens). 2007;6:152-156.
  • 113
    Saez ME, Ruiz A, Cebrian A, et al. A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation? Hum Mutat. 2000;15:122.
  • 114
    Raue F, Kraimps JL, Dralle H, et al. Primary hyperparathyroidism in multiple endocrine neoplasia type 2A. J Intern Med. 1995;238:369-373.
  • 115
    Rey JM, Brouillet JP, Fonteneau-Allaire J, et al. Novel germline RET mutation segregating with papillary thyroid carcinomas. Genes Chromosomes Cancer. 2001;32:390-391.
  • 116
    Ercolino T, Lombardi A, Becherini L, et al. The Y606C RET mutation causes a receptor gain of function. Clin Endocrinol (Oxf). 2008;69:253-258.
  • 117
    Paszko Z, Sromek M, Czetwertynska M, et al. The occurrence and the type of germline mutations in the RET gene in patients with medullary thyroid carcinoma and their unaffected kindred's from Central Poland. Cancer Invest. 2007;25:742-749.
  • 118
    Colombo-Benkmann M, Li Z, Riemann B, et al. Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonaggressive medullary thyroid carcinoma. Eur J Endocrinol. 2008;158:811-816.
  • 119
    Eng C, Clayton D, Schuffenecker I, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA. 1996;276:1575-1579.
  • 120
    D'Aloiso L, Carlomagno F, Bisceglia M, et al. Clinical case seminar: in vivo and in vitro characterization of a novel germline RET mutation associated with low-penetrant nonaggressive familial medullary thyroid carcinoma. J Clin Endocrinol Metab. 2006;91:754-759.
  • 121
    Frank-Raue K, Machens A, Scheuba C, Niederle B, Dralle H, Raue F. Difference in development of medullary thyroid carcinoma among carriers of RET mutations in codons 790 and 791. Clin Endocrinol (Oxf). 2008;69:259-263.
  • 122
    Cranston A, Carniti C, Martin S, et al. A novel activating mutation in the RET tyrosine kinase domain mediates neoplastic transformation. Mol Endocrinol. 2006;20:1633-1643.
  • 123
    Berndt I, Reuter M, Saller B, et al. A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab. 1998;83:770-774.
  • 124
    Prazeres HJ, Rodrigues F, Figueiredo P, et al. Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal. Clin Endocrinol (Oxf). 2006;64:659-666.
  • 125
    Hofstra RM, Fattoruso O, Quadro L, et al. A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. J Clin Endocrinol Metab. 1997;82:4176-4178.
  • 126
    Jimenez C, Habra MA, Huang SC, et al. Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. J Clin Endocrinol Metab. 2004;89:4142-4145.
  • 127
    Kameyama K, Okinaga H, Takami H. RET oncogene mutations in 75 cases of familial medullary thyroid carcinoma in Japan. Biomed Pharmacother. 2004;58:345-347.
  • 128
    Hoppner W, Dralle H, Brabant G. Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A. Hum Mutat. 1998;Suppl 1: S128-130.
  • 129
    Hoppner W, Ritter MM. A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A. Hum Mol Genet. 1997;6:587-590.
  • 130
    Kasprzak L, Nolet S, Gaboury L, et al. Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET. J Med Genet. 2001;38:784-787.
  • 131
    Punales MK, Graf H, Gross JL, Maia AL. RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome. J Clin Endocrinol Metab. 2003;88:2644-2649.
  • 132
    Cranston AN, Carniti C, Oakhill K, et al. RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B. Cancer Res. 2006;66:10179-10187.
  • 133
    Miyauchi A, Futami H, Hai N, et al. Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation. Jpn J Cancer Res. 1999;90:1-5.
  • 134
    Menko FH, van der Luijt RB, de Valk IA, et al. Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. J Clin Endocrinol Metab. 2002;87:393-397.
  • 135
    Gimm O, Marsh DJ, Andrew SD, et al. Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab. 1997;82:3902-3904.
  • 136
    Smith DP, Houghton C, Ponder BA. Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene. 1997;15:1213-1217.