RET

Summary

Gene Symbol: RET
Description: ret proto-oncogene
Alias: CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1, proto-oncogene tyrosine-protein kinase receptor Ret, RET receptor tyrosine kinase, cadherin family member 12, cadherin-related family member 16, proto-oncogene c-Ret, rearranged during transfection, ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)
Species: human
Products:     RET

Top Publications

  1. Griseri P, Lantieri F, Puppo F, Bachetti T, Di Duca M, Ravazzolo R, et al. A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease. Hum Mutat. 2007;28:168-76 pubmed
    ..by the absence of enteric neurons in distal segments of the gut, shows a complex pattern of inheritance, with the RET protooncogene acting as a major gene and additional susceptibility loci playing minor roles...
  2. Fernandez R, Pecina A, Antinolo G, Navarro E, Borrego S. Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma. Thyroid. 2006;16:411-7 pubmed
    ..While germline gain-of-function mutations in the RET proto-oncogene cause hereditary MTC, the molecular mechanisms leading to the sporadic forms remain obscure...
  3. Meyer Rochow G, Smith J, Richardson A, Marsh D, Sidhu S, Robinson B, et al. Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. J Surg Res. 2009;157:55-62 pubmed publisher
    ..disease, Neurofibromatosis Type 1, and the pheochromocytoma/paraganglioma syndromes caused by mutations in the RET, VHL, NF1, SDHB, and SDHD genes, respectively...
  4. Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, et al. Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association. Hum Mutat. 2009;30:771-5 pubmed publisher
    ..Here we demonstrate that the RET enhancer polymorphism RET+9.7 (rs2435357:C>T) at chromosome 10q11...
  5. Erlic Z, Hoffmann M, Sullivan M, Franke G, Peczkowska M, Harsch I, et al. Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. J Clin Endocrinol Metab. 2010;95:308-13 pubmed publisher
    ..Variants in two susceptibility genes, SDHC and RET, were found in a kindred with head and neck paraganglioma...
  6. Hickey J, Myers S, Tian X, Zhu S, V Shaw J, Andrew S, et al. RET-mediated gene expression pattern is affected by isoform but not oncogenic mutation. Genes Chromosomes Cancer. 2009;48:429-40 pubmed publisher
    The inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN 2) is caused by mutations of the RET receptor tyrosine kinase and is characterized by medullary thyroid carcinoma...
  7. Dvorakova S, Vaclavikova E, Sykorova V, Vcelak J, Novak Z, Duskova J, et al. Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinomas. Mol Cell Endocrinol. 2008;284:21-7 pubmed publisher
    The frequency and prognostic relevance of RET proto-oncogene somatic mutations in sporadic medullary thyroid carcinoma (MTC) remain controversial...
  8. Tamanaha R, Camacho C, Ikejiri E, Maciel R, Cerutti J. Y791F RET mutation and early onset of medullary thyroid carcinoma in a Brazilian kindred: evaluation of phenotype-modifying effect of germline variants. Clin Endocrinol (Oxf). 2007;67:806-8 pubmed
  9. Runeberg Roos P, Virtanen H, Saarma M. RET(MEN 2B) is active in the endoplasmic reticulum before reaching the cell surface. Oncogene. 2007;26:7909-15 pubmed
    ..is an autosomal dominant cancer syndrome caused by an oncogenic form of the receptor tyrosine kinase REarranged during transfection (RET)...

More Information

Publications81

  1. Miao X, Garcia Barcelo M, So M, Leon T, Lau D, Liu T, et al. Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population. Gut. 2007;56:736 pubmed
  2. Ruiz Ferrer M, Fernandez R, Antinolo G, Lopez Alonso M, Eng C, Borrego S. A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes. Genet Med. 2006;8:704-10 pubmed
    The RET proto-oncogene is considered to be the major susceptibility gene involved in Hirschsprung disease...
  3. Cornes B, Tang C, Leon T, Hui K, So M, Miao X, et al. Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population. PLoS ONE. 2010;5:e10918 pubmed publisher
    ..The RET gene is the major gene implicated in this gastrointestinal disease...
  4. Lipson D, Capelletti M, Yelensky R, Otto G, Parker A, Jarosz M, et al. Identification of new ALK and RET gene fusions from colorectal and lung cancer biopsies. Nat Med. 2012;18:382-4 pubmed publisher
    ..alteration in 59% of the samples and revealed two gene fusions, C2orf44-ALK in a colorectal cancer sample and KIF5B-RET in a lung adenocarcinoma...
  5. Hyndman B, Gujral T, Krieger J, Cockburn J, Mulligan L. Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease. Hum Mutat. 2013;34:132-42 pubmed publisher
    The REarranged during Transfection (RET) gene encodes a receptor tyrosine kinase required for maturation of the enteric nervous system...
  6. Tou J, Wang L, Liu L, Wang Y, Zhong R, Duan S, et al. Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis. BMC Med Genet. 2011;12:32 pubmed publisher
    Hirschsprung's disease (HSCR) is a classic oligogenic disorder. Except inactivating mutations of RET, some single nucleotide polymorphisms (SNPs) are identified to be associated with the risk of HSCR...
  7. Plaza Menacho I, van der Sluis T, Hollema H, Gimm O, Buys C, Magee A, et al. Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation. J Biol Chem. 2007;282:6415-24 pubmed
    The precise role of STAT3 Ser(727) phosphorylation in RET-mediated cell transformation and oncogenesis is not well understood...
  8. Moore S, Zaahl M. Intronic RET gene variants in Down syndrome-associated Hirschsprung disease in an African population. J Pediatr Surg. 2012;47:299-302 pubmed publisher
    Clinical association between Hirschsprung disease (HD) and Down syndrome (DS) is well established. RET promoter and intron 1 variations have been shown to interfere with RET function, increasing the risk of HD pathogenesis...
  9. Plaza Menacho I, Barnouin K, Goodman K, Martinez Torres R, Borg A, Murray Rust J, et al. Oncogenic RET kinase domain mutations perturb the autophosphorylation trajectory by enhancing substrate presentation in trans. Mol Cell. 2014;53:738-51 pubmed publisher
    To decipher the molecular basis for RET kinase activation and oncogenic deregulation, we defined the temporal sequence of RET autophosphorylation by label-free quantitative mass spectrometry...
  10. Ceolin L, Siqueira D, Ferreira C, Romitti M, Maia S, Leiria L, et al. Additive effect of RET polymorphisms on sporadic medullary thyroid carcinoma susceptibility and tumor aggressiveness. Eur J Endocrinol. 2012;166:847-54 pubmed publisher
    b>RET single nucleotide polymorphisms (SNPs) have been implicated in the pathogenesis and progression of medullary thyroid carcinoma (MTC)...
  11. Ishii K, Doi T, Inoue K, Okawada M, Lane G, Yamataka A, et al. Correlation between multiple RET mutations and severity of Hirschsprung's disease. Pediatr Surg Int. 2013;29:157-63 pubmed publisher
    ..The RET receptor tyrosine kinase is expressed throughout enteric neurogenesis and is required for normal ENS development...
  12. Brooks A, Leegwater P, Burzynski G, Willems P, de Graaf B, Van Langen I, et al. A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3. J Med Genet. 2006;43:e35 pubmed
    ..Analysis of the RET gene, the major gene involved in HSCR susceptibility, revealed neither linkage nor mutations...
  13. Cascon A, Pita G, Burnichon N, Landa I, López Jiménez E, Montero Conde C, et al. Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab. 2009;94:1701-5 pubmed publisher
    ..Two hundred thirty-seven nonrelated probands were analyzed for the major susceptibility genes: VHL, RET, SDHB, SDHC, and SDHD...
  14. Gandhi M, Dillon L, Pramanik S, Nikiforov Y, Wang Y. DNA breaks at fragile sites generate oncogenic RET/PTC rearrangements in human thyroid cells. Oncogene. 2010;29:2272-80 pubmed publisher
    ..Here, we studied the involvement of fragile sites in the formation of RET/PTC rearrangements, which are frequently found in papillary thyroid carcinoma (PTC)...
  15. Virtanen V, Pukkala E, Kivisaari R, Salo P, Koivusalo A, Arola J, et al. Thyroid cancer and co-occurring RET mutations in Hirschsprung disease. Endocr Relat Cancer. 2013;20:595-602 pubmed publisher
    The objective of this study was to assess the occurrence of thyroid cancer and co-occurring RET mutations in a population-based cohort of adult Hirschsprung disease (HD) patients...
  16. Smigiel R, Lebioda A, Patkowski D, Czernik J, Dobosz T, Pesz K, et al. Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype. J Appl Genet. 2006;47:261-7 pubmed
    ..Recent advances show that the RET gene is a major locus involved in the pathogenesis of HSCR...
  17. Plaza Menacho I, Burzynski G, de Groot J, Eggen B, Hofstra R. Current concepts in RET-related genetics, signaling and therapeutics. Trends Genet. 2006;22:627-36 pubmed
    The receptor tyrosine kinase RET is expressed in cell lineages derived from the neural crest and has a key role in regulating cell proliferation, migration, differentiation and survival during embryogenesis...
  18. Mukherjee S, Zakalik D. RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management. Clin Genet. 2011;79:1-16 pubmed publisher
    Multiple endocrine neoplasia type 2 (MEN 2) is a genetic syndrome caused by germline mutations in the RET proto-oncogene...
  19. Zhang X, Zhou M, Qiu Y, Ding S, Qi M, Li J. Genetic analysis of RET, EDNRB, and EDN3 genes and three SNPs in MCS + 9.7 in Chinese Patients with isolated Hirschsprung disease. Biochem Genet. 2007;45:523-7 pubmed
  20. Elisei R, Cosci B, Romei C, Bottici V, Renzini G, Molinaro E, 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;93:682-7 pubmed
    ..Somatic RET mutations have been found in 40-50% of MTCs...
  21. Marotta V, Guerra A, Sapio M, Vitale M. RET/PTC rearrangement in benign and malignant thyroid diseases: a clinical standpoint. Eur J Endocrinol. 2011;165:499-507 pubmed publisher
    ..In this article, we review the clinical implications of preoperative detection of rearrangements of the RET gene (RET/papillary thyroid carcinoma (PTC)) in thyroid nodules...
  22. Tsui C, Pierchala B. CD2AP and Cbl-3/Cbl-c constitute a critical checkpoint in the regulation of ret signal transduction. J Neurosci. 2008;28:8789-800 pubmed publisher
    ..GFLs promote survival and growth via activation of the receptor tyrosine kinase (RTK) Ret. In sympathetic neurons, the duration of Ret signaling is governed by how rapidly Ret is degraded after its ..
  23. Frank Raue K, Rondot S, Schulze E, Raue F. Change in the spectrum of RET mutations diagnosed between 1994 and 2006. Clin Lab. 2007;53:273-82 pubmed
    ..Hereditary MTC is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. The first RET germline mutations were identified in 1993 in patients with MEN 2A and FMTC...
  24. Wang R, Hu H, Pan Y, Li Y, Ye T, Li C, et al. RET fusions define a unique molecular and clinicopathologic subtype of non-small-cell lung cancer. J Clin Oncol. 2012;30:4352-9 pubmed publisher
    The RET fusion gene has been recently described in a subset of non-small-cell lung cancers (NSCLCs)...
  25. Kohno T, Ichikawa H, Totoki Y, Yasuda K, Hiramoto M, Nammo T, et al. KIF5B-RET fusions in lung adenocarcinoma. Nat Med. 2012;18:375-7 pubmed publisher
    We identified in-frame fusion transcripts of KIF5B (the kinesin family 5B gene) and the RET oncogene, which are present in 1-2% of lung adenocarcinomas (LADCs) from people from Japan and the United States, using whole-transcriptome ..
  26. Pini Prato A, Musso M, Ceccherini I, Mattioli G, Giunta C, Ghiggeri G, et al. Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. Medicine (Baltimore). 2009;88:83-90 pubmed publisher
    ..we designed a prospective study aimed at determining the prevalence of CAKUT in HSCR patients and at identifying RET, glial cell line-derived neurotrophic factor (GDNF), and GDNF family receptor alpha1 (GFRalpha1) mutations or ..
  27. Vaclavikova E, Kavalcova L, Skaba R, Dvorakova S, Macokova P, Rouskova B, et al. Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene. Pediatr Surg Int. 2012;28:123-8 pubmed publisher
    Inactivating germline mutations in the RET proto-oncogene are the major genetic cause of Hirschsprung's disease (HD)...
  28. Kurotsuchi A, Murakumo Y, Jijiwa M, Kurokawa K, Itoh Y, Kodama Y, et al. Analysis of DOK-6 function in downstream signaling of RET in human neuroblastoma cells. Cancer Sci. 2010;101:1147-55 pubmed publisher
    ..the plasma membrane via its pleckstrin homology (PH) domain, and was phosphorylated following RET activation via a MEN2A mutation or GDNF stimulation...
  29. Ryu H, Jeon G, Cashman N, Kowall N, Lee J. Differential expression of c-Ret in motor neurons versus non-neuronal cells is linked to the pathogenesis of ALS. Lab Invest. 2011;91:342-52 pubmed publisher
    ..the expression of non-phosphorylated and phosphorylated forms (tyrosine (Tyr) residue 905, 1016, and 1062) of c-Ret, a member of the glial cell line-derived neurotrophic factor (GDNF) receptor, are altered in motor neurons of the ..
  30. Lantieri F, Caroli F, Ceccherini I, Griseri P. The involvement of the RET variant G691S in medullary thyroid carcinoma enlightened by a meta-analysis study. Int J Cancer. 2013;132:2808-19 pubmed publisher
    Medullary thyroid carcinoma (MTC) is a rare tumor, partially explained by mutations in the rearranged during transfection (RET) proto-oncogene...
  31. Pan Z, Luo C, Liu Z, Li J. RET 3'UTR polymorphisms and its protective role in Hirschsprung disease in southeastern Chinese. J Pediatr Surg. 2012;47:1699-705 pubmed publisher
    ..Several RET polymorphisms and haplotypes have been described as underrepresented in HSCR patients with respect to controls...
  32. Margraf R, Crockett D, Krautscheid P, Seamons R, Calderon F, Wittwer C, et al. Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. Hum Mutat. 2009;30:548-56 pubmed publisher
    ..neoplasia type 2 (MEN2) is an inherited, autosomal-dominant disorder caused by deleterious mutations within the RET protooncogene...
  33. Zhou Y, Zhao Y, Cui B, Gu L, Zhu S, Li J, et al. RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B. Clin Endocrinol (Oxf). 2007;67:570-6 pubmed
    ..In this paper we present the phenotype-genotype correlation of 20 unrelated Chinese families with 15 cases of MEN2A and five cases of MEN2B.
  34. Kosari F, Ida C, Aubry M, Yang L, Kovtun I, Klein J, et al. ASCL1 and RET expression defines a clinically relevant subgroup of lung adenocarcinoma characterized by neuroendocrine differentiation. Oncogene. 2014;33:3776-83 pubmed publisher
    ..gene expression profiles in stage I lung adenocarcinomas identified significantly higher expression levels of the RET oncogene in ASCL1-positive tumors (ASCL1(+)) compared with ASCL1(-) tumors (q-value <10(-9))...
  35. Sippel R, Kunnimalaiyaan M, Chen H. Current management of medullary thyroid cancer. Oncologist. 2008;13:539-47 pubmed publisher
    ..The majority of medullary thyroid cancers are sporadic, but 20% of cases are a result of a germline mutation in the ret proto-oncogene...
  36. Colombo Benkmann M, Li Z, Riemann B, Hengst K, Herbst H, Keuser R, et al. Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonaggressive medullary thyroid carcinoma. Eur J Endocrinol. 2008;158:811-6 pubmed publisher
    For rare and novel RET mutations associated with hereditary medullary thyroid carcinoma (MTC), clinical and functional studies are needed to classify the RET mutation into one of the three clinical risk groups...
  37. Gujral T, Van Veelen W, Richardson D, Myers S, Meens J, Acton D, et al. A novel RET kinase-beta-catenin signaling pathway contributes to tumorigenesis in thyroid carcinoma. Cancer Res. 2008;68:1338-46 pubmed publisher
    The RET receptor tyrosine kinase has essential roles in cell survival, differentiation, and proliferation...
  38. Gattelli A, Nalvarte I, Boulay A, Roloff T, Schreiber M, Carragher N, et al. Ret inhibition decreases growth and metastatic potential of estrogen receptor positive breast cancer cells. EMBO Mol Med. 2013;5:1335-50 pubmed publisher
    We show that elevated levels of Ret receptor are found in different sub-types of human breast cancers and that high Ret correlates with decreased metastasis-free survival...
  39. Figlioli G, Landi S, Romei C, Elisei R, Gemignani F. Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form. Mutat Res. 2013;752:36-44 pubmed publisher
    ..b>RET proto-oncogene germline mutations are crucial for the onset and the progression of fMTC, and the occurrence of ..
  40. Núñez Torres R, Fernandez R, Acosta M, Enguix Riego M, Marbà M, Carlos de Agustín J, et al. Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events. BMC Med Genet. 2011;12:138 pubmed publisher
    b>RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology...
  41. Wang C, Mayer J, Mazumdar A, Brown P. The rearranged during transfection/papillary thyroid carcinoma tyrosine kinase is an estrogen-dependent gene required for the growth of estrogen receptor positive breast cancer cells. Breast Cancer Res Treat. 2012;133:487-500 pubmed publisher
    The rearranged during transfection/papillary thyroid carcinoma (RET/PTC) tyrosine kinase is an oncogene implicated in the tumorigenesis of thyroid cancer...
  42. Mulligan L. RET revisited: expanding the oncogenic portfolio. Nat Rev Cancer. 2014;14:173-86 pubmed publisher
    The RET receptor tyrosine kinase is crucial for normal development but also contributes to pathologies that reflect both the loss and the gain of RET function...
  43. Emison E, Garcia Barcelo M, Grice E, Lantieri F, Amiel J, Burzynski G, et al. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet. 2010;87:60-74 pubmed publisher
    The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET. In a study of 690 European- and 192 Chinese-descent probands and their parents or controls, we demonstrate the ubiquity of a >4-fold ..
  44. Sánchez Mejías A, Fernandez R, Lopez Alonso M, Antinolo G, Borrego S. Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family. J Med Genet. 2009;46:862-4 pubmed publisher
    ..A multiplex HSCR family with an additive model of inheritance, in which the contribution of three genes (RET, NTRK3, EDN3) leads to the HSCR phenotype is reported...
  45. Richardson D, Mulligan L. Direct visualization of vesicle maturation and plasma membrane protein trafficking. J Fluoresc. 2010;20:401-5 pubmed publisher
    ..Using the transmembrane receptor RET as a model, we demonstrate how this method can be applied to identify plasma membrane-derived vesicle maturation, ..
  46. 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;69:259-63 pubmed publisher
    Hereditary medullary thyroid carcinoma (MTC) is caused by germ-line mutations in the RET proto-oncogene. Our study addresses the difference in development of MTC between rare mutations in RET codons 790, 791 and 804...
  47. Ruckert F, Görgens H, Richter I, Krex D, Schackert G, Kuhlisch E, et al. RET-protooncogene variants in patients with sporadic neoplasms of the digestive tract and the central nervous system. Int J Colorectal Dis. 2011;26:835-40 pubmed publisher
    The RET protooncogene plays a crucial role in neural crest development; accordingly, mutations of RET cause MEN2A and familial medullary thyroid carcinoma, while the expression deregulation of RET is involved in the pathophysiology of ..
  48. Jannot A, Amiel J, Pelet A, Lantieri F, Fernandez R, Verheij J, et al. Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease. Eur J Hum Genet. 2012;20:917-20 pubmed publisher
    ..determination of HSCR in the vast majority of cases, there is a monogenic subgroup for which private rare RET coding sequence mutations with high penetrance are found (45% of HSCR familial cases)...
  49. Toledo R, Wagner S, Coutinho F, Lourenço D, Azevedo J, Longuini V, et al. High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene. J Clin Endocrinol Metab. 2010;95:1318-27 pubmed publisher
    Previous studies have shown that double RET mutations may be associated with unusual multiple endocrine neoplasia type 2 (MEN 2) phenotypes.
  50. Cerchia L, D Alessio A, Amabile G, Duconge F, Pestourie C, Tavitian B, et al. An autocrine loop involving ret and glial cell-derived neurotrophic factor mediates retinoic acid-induced neuroblastoma cell differentiation. Mol Cancer Res. 2006;4:481-8 pubmed
    ..factor receptors, including Trk family receptors and the glial cell-derived neurotrophic factor receptor, Ret. In several cases, increased expression is dependent on signaling through TrkB...
  51. Richardson D, Gujral T, Peng S, Asa S, Mulligan L. Transcript level modulates the inherent oncogenicity of RET/PTC oncoproteins. Cancer Res. 2009;69:4861-9 pubmed publisher
    ..many as one in three cases of thyroid cancer and have been detected in both the medullary (MTC) and the papillary (PTC) forms of the disease...
  52. Frank Raue K, Döhring J, Scheumann G, Rondot S, Lorenz A, Schulze E, et al. New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour. Exp Clin Endocrinol Diabetes. 2010;118:550-3 pubmed publisher
    Clinical studies are needed to classify rare and novel RET mutations associated with hereditary medullary thyroid carcinoma (MTC) into one of the clinical risk groups...
  53. Plaza Menacho I, Mologni L, Sala E, Gambacorti Passerini C, Magee A, Links T, et al. Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting. J Biol Chem. 2007;282:29230-40 pubmed
    Germ line missense mutations in the RET (rearranged during transfection) oncogene are the cause of multiple endocrine neoplasia, type 2 (MEN2), but at present surgery is the only treatment available for MEN2 patients...
  54. Cosci B, Vivaldi A, Romei C, Gemignani F, Landi S, Ciampi R, et al. In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer. Endocr Relat Cancer. 2011;18:603-12 pubmed publisher
    Germline and somatic RET oncogene mutations are found in 98% hereditary and 40% sporadic medullary thyroid carcinomas...
  55. Plaza Menacho I, Morandi A, Mologni L, Boender P, Gambacorti Passerini C, Magee A, et al. Focal adhesion kinase (FAK) binds RET kinase via its FERM domain, priming a direct and reciprocal RET-FAK transactivation mechanism. J Biol Chem. 2011;286:17292-302 pubmed publisher
    Whether RET is able to directly phosphorylate and activate downstream targets independently of the binding of proteins that contain Src homology 2 or phosphotyrosine binding domains and whether mechanisms in trans by cytoplasmic kinases ..
  56. Takeuchi K, Soda M, Togashi Y, Suzuki R, Sakata S, Hatano S, et al. RET, ROS1 and ALK fusions in lung cancer. Nat Med. 2012;18:378-81 pubmed publisher
    ..unidentified kinase fusions that may be promising for molecular-targeted therapy, kinesin family member 5B (KIF5B)-ret proto-oncogene (RET) and coiled-coil domain containing 6 (CCDC6)-RET, in 14 adenocarcinomas...
  57. Phusantisampan T, Sangkhathat S, Phongdara A, Chiengkriwate P, Patrapinyokul S, Mahasirimongkol S. Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients. J Hum Genet. 2012;57:286-93 pubmed publisher
    ..disease (HSCR) is a congenital developmental defect of the enteric nervous system known to be associated with the RET-protooncogene and other candidates...
  58. Garcia Barcelo M, Miao X, Lui V, So M, Ngan E, Leon T, et al. Correlation between genetic variations in Hox clusters and Hirschsprung's disease. Ann Hum Genet. 2007;71:526-36 pubmed
    ..A key signalling mediator is the RET-receptor-tyrosine-kinase which, when defective, causes Hirschprung's disease (HSCR, colon aganglionosis)...
  59. Plaza Menacho I, Morandi A, Robertson D, Pancholi S, Drury S, Dowsett M, et al. Targeting the receptor tyrosine kinase RET sensitizes breast cancer cells to tamoxifen treatment and reveals a role for RET in endocrine resistance. Oncogene. 2010;29:4648-57 pubmed publisher
    ..we show that in ERalpha-positive breast cancer cells, activation of the receptor tyrosine kinase RET (REarranged during Transfection) by its ligand GDNF results in increased ERalpha phosphorylation on Ser118 and Ser167 and estrogen-..
  60. Boikos S, Stratakis C. Molecular mechanisms of medullary thyroid carcinoma: current approaches in diagnosis and treatment. Histol Histopathol. 2008;23:109-16 pubmed publisher
    ..Dominant-activating mutations in the RET proto-oncogene have been shown to have a central role in the development of MEN 2 and sporadic medullary thyroid ..
  61. Pierchala B, Milbrandt J, Johnson E. Glial cell line-derived neurotrophic factor-dependent recruitment of Ret into lipid rafts enhances signaling by partitioning Ret from proteasome-dependent degradation. J Neurosci. 2006;26:2777-87 pubmed
    The receptor tyrosine kinase (RTK) Ret is activated by the formation of a complex consisting of ligands such as glial cell line-derived neurotrophic factor (GDNF) and glycerophosphatidylinositol-anchored coreceptors termed GFRalphas...
  62. Boulay A, Breuleux M, Stephan C, Fux C, Brisken C, Fiche M, et al. The Ret receptor tyrosine kinase pathway functionally interacts with the ERalpha pathway in breast cancer. Cancer Res. 2008;68:3743-51 pubmed publisher
    ..Here, we investigated the contribution of the Ret receptor tyrosine kinase to breast tumor biology. Ret was expressed in primary breast tumors and cell lines...
  63. Garcia Barcelo M, Tang C, Ngan E, Lui V, Chen Y, So M, et al. Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Proc Natl Acad Sci U S A. 2009;106:2694-9 pubmed publisher
    ..b>RET is a well-established susceptibility locus, although existing evidence strongly suggests additional loci ..
  64. Richardson D, Rodrigues D, Hyndman B, Crupi M, Nicolescu A, Mulligan L. Alternative splicing results in RET isoforms with distinct trafficking properties. Mol Biol Cell. 2012;23:3838-50 pubmed publisher
    b>RET encodes a receptor tyrosine kinase that is essential for spermatogenesis, development of the sensory, sympathetic, parasympathetic, and enteric nervous systems and the kidneys, as well as for maintenance of adult midbrain ..
  65. Liu C, Jin L, Li H, Lou J, Luo C, Zhou X, et al. RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population. J Hum Genet. 2008;53:825-33 pubmed publisher
    ..b>RET coding mutations have been found in approximately 50% of familial cases, but they only explain a minority of ..
  66. Frank Raue K, Rybicki L, Erlic Z, Schweizer H, Winter A, Milos I, et al. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat. 2011;32:51-8 pubmed publisher
    Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce...
  67. Mannelli M, Castellano M, Schiavi F, Filetti S, Giacchè M, Mori L, et al. Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab. 2009;94:1541-7 pubmed publisher
    ..Germ-line mutations in known susceptibility genes were investigated by gene sequencing (VHL, RET, SDHB, SDHC, SDHD) or diagnosed according to phenotype (NF1)...
  68. Miao X, Leon T, Ngan E, So M, Yuan Z, Lui V, et al. Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease. Hum Mol Genet. 2010;19:1461-7 pubmed publisher
    Receptor tyrosine kinase (RET) single nucleotide polymorphisms (SNPs) are associated with the Hirschsprung's disease (HSCR)...
  69. Korpershoek E, Van Nederveen F, Dannenberg H, Petri B, Komminoth P, Perren A, et al. Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. Ann N Y Acad Sci. 2006;1073:138-48 pubmed
    ..as an autosomal dominant trait alone or as a component of the multiple endocrine neoplasia Type 2 (MEN2) syndrome (RET gene), Von Hippel-Lindau (VHL) disease (VHL gene), neurofibromatosis Type 1 (NF1 gene), or familial ..
  70. Romei C, Cosci B, Renzini G, Bottici V, Molinaro E, Agate L, et al. 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). Clin Endocrinol (Oxf). 2011;74:241-7 pubmed publisher
    This study was aimed to demonstrate the clinical benefits of rearranged during transfection (RET) genetic screening in patients with apparently sporadic medullary thyroid cancer (MTC) not only to identify the hereditary nature of the ..
  71. Cai W, Su C, Li X, Fan L, Zheng L, Fei K, et al. KIF5B-RET fusions in Chinese patients with non-small cell lung cancer. Cancer. 2013;119:1486-94 pubmed publisher
    It has been established that "ret proto-oncogene" (RET) fusions are oncogenic drivers in non-small cell lung cancer (NSCLC)...
  72. Liu C, Tang Q, Lou J, Luo C, Zhou X, Li D, et al. Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China. Biochem Genet. 2010;48:496-503 pubmed publisher
    ..This study investigated a possible role of the RET proto-oncogene in sporadic HSCR patients in the Han Chinese population...