Condition: Multiple endocrine neoplasia Type 2
rs143795581 in
RET gene and
Multiple endocrine neoplasia Type 2
PMID 21690267 2011 Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.
PMID 15858153 2005 The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A.
PMID 27673361 2016 Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation.
PMID 25319874 2014 A newly identified missense mutation in RET codon 666 is associated with the development of medullary thyroid carcinoma.
PMID 24569963 2014 Overexpression of genes involved in miRNA biogenesis in medullary thyroid carcinomas with RET mutation.
PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
PMID 28946813 2017 Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
PMID 20103606 2010 Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.
PMID 21678021 2011 Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.
PMID 15858153 2005 Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.
PMID 25725622 2015 Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma.
PMID 21810974 2011 In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.
PMID 17895320 2007 RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center.
PMID 18631007 2008 A new germline point mutation in Ret exon 8 (cys515ser) in a family with medullary thyroid carcinoma.
PMID 12686527 2003 Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship.
PMID 14718397 2004 Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2.
PMID 11694544 2001 Hirschsprung disease, associated syndromes, and genetics: a review.
PMID 19029228 2009 Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?
PMID 9068588 1997 Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma.
PMID 11073534 2000 Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis.
PMID 8807338 1996 Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.
PMID 9677065 1998 Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.
PMID 8855832 1996 Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma.
PMID 25379023 2014 Adrenal medullary hyperplasia is a precursor lesion for pheochromocytoma in MEN2 syndrome.
PMID 10951350 2000 Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome?
PMID 20979234 2011 Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
PMID 8626834 1996 Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group.
PMID 7907913 1994 Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
PMID 20063095 2010 Factors predicting outcome of total thyroidectomy in young patients with multiple endocrine neoplasia type 2: a nationwide long-term follow-up study.
PMID 30300539 2018 The RET C611Y mutation causes MEN 2A and associated cutaneous
PMID 11331212 2001 Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low grade malignancy.
PMID 9230192 1997 Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.
PMID 11230481 2001 Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.
PMID 18062802 2008 Familial prevalence and age of RET germline mutations: implications for screening.
PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.
PMID 12734540 2003 Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.
PMID 19318731 2009 Long term parathyroid function following total parathyroidectomy with autotransplantation in adult patients with MEN2A.
PMID 18302097 2008 [Multiple endocrine neoplasia 2a: late manifestation of a newly-discovered mutation].
PMID 9950371 1999 High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.
PMID 9490783 1998 Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations.
PMID 17527003 2007 A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation: report of a case.
PMID 16053382 2005 Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma.
PMID 25440022 2015 Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer?
PMID 9879991 1998 Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines.
PMID 15523405 2004 Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation.
PMID 14561794 2003 Early malignant progression of hereditary medullary thyroid cancer.
PMID 21054478 2011 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).
PMID 9223675 1997 Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.
PMID 8625130 1995 Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas.
PMID 7595167 1995 The RET proto-oncogene and cancer.
PMID 8612479 1996 Characterization of ret oncogenic activation in MEN2 inherited cancer syndromes.
PMID 8099202 1993 Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.
PMID 15844786 2005 Medullary thyroid carcinoma in a child with a new RET mutation and a RET polymorphism.
PMID 16954442 2006 An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma.
PMID 27539324 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.
PMID 27807060 2016 M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds.
PMID 9075701 1997 Only the substitution of methionine 918 with a threonine and not with other residues activates RET transforming potential.
PMID 9242375 1997 Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.
PMID 7906417 1994 Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.
PMID 20516206 2010 Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.
PMID 30763276 2019 Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.
PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.
PMID 8918855 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
PMID 16715139 2006 Evaluation of potential mechanisms underlying genotype-phenotype correlations in multiple endocrine neoplasia type 2.
PMID 22965292 2012 Failure of pentagastrin-stimulated calcitonin testing in early manifestation of familial medullary thyroid cancer.
PMID 12490841 2002 RET proto-oncogene mutations affecting codon 790/791: A mild form of multiple endocrine neoplasia type 2A syndrome?
PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.
PMID 21688339 2012 Role of prophylactic thyroidectomy in RET 790 familial medullary thyroid carcinoma.
PMID 23756355 2013 The clinical spectrum of RET proto-oncogene mutations in codon 790.
PMID 16865646 2006 Hereditary medullary thyroid cancer in Slovenia--genotype-phenotype correlations.
PMID 12409662 2002 Various penetrance of familial medullary thyroid carcinoma in patients with RET protooncogene codon 790/791 germline mutations.
PMID 9506724 1998 A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.
PMID 22403753 2012 Bilateral adrenal pheochromocytoma with a germline L790F mutation in the RET oncogene.
PMID 12193298 2002 Papillary thyroid carcinoma in patients with RET proto-oncogene germline mutation.
PMID 11987030 2002 Molecular and biochemical screening for the diagnosis and management of medullary thyroid carcinoma in multiple endocrine neoplasia type 2A.
PMID 18058472 2007 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.
PMID 21765987 2011 Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.
PMID 19201392 2009 Multiple endocrine neoplasia type 2a and germ line C634G RET mutation diagnosed in an 80-year-old patient.
PMID 15531714 2004 Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic.
PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.
PMID 16865647 2006 Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer.
PMID 12864791 2003 Frequent association between MEN 2A and cutaneous lichen amyloidosis.
PMID 18063059 2007 Pheochromocytoma penetrance varies by RET mutation in MEN 2A.
PMID 18976013 2008 Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.
PMID 8103403 1993 Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
PMID 25027091 2014 Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation.
PMID 24331334 2014 Multiple endocrine neoplasia type 2A: case report.
PMID 8765374 1996 [Detection of RET-proto-oncogene mutations in the diagnosis of Type 2 endocrine neoplasia (MEN 2)].
PMID 24784869 2014 Multiple endocrine neoplasia type 2A in an Iranian family: clinical and genetic studies.
PMID 23617071 2013 Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A.
PMID 11939755 2002 Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis.
PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.
PMID 23861463 2013 Medullary thyroid cancer secreting carbohydrate antigen 19-9 (Ca 19-9): a fatal case report.
PMID 15472167 2004 A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure.
PMID 7874109 1994 RET proto-oncogene mutations in French MEN 2A and FMTC families.
PMID 11900218 2002 Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: presence of C-cell malignant disease in asymptomatic carriers.
PMID 21449769 2011 Primary hyperparathyroidism as the first clinical manifestation of multiple endocrine neoplasia type 2A in a 5-year-old child.
PMID 24716929 2014 Characterization of wild-type and mutated RET proto- oncogene associated with familial medullary thyroid cancer.
PMID 26356818 2015 RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.
PMID 25515555 2015 RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation.
PMID 11524247 2001 Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary.
PMID 9111993 1997 A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.
PMID 7915822 1994 Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A.
PMID 7824936 1995 Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.
PMID 7595171 1995 From medical history and biochemical tests to presymptomatic treatment in a large MEN 2A family.
PMID 12150334 2003 Clinical characteristics and genetic screening of an extended family with MEN2A.
PMID 26230854 2015 Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.
PMID 26678667 2016 Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer.
PMID 27698838 2016 Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report.
PMID 24449023 2014 We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A.
PMID 10024437 1999 A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy.
PMID 25810047 2015 Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.
PMID 20554711 2010 The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A.
PMID 17178962 2006 Estimated risk of pheochromocytoma recurrence after adrenal-sparing surgery in patients with multiple endocrine neoplasia type 2A.
PMID 15292360 2004 Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation.
PMID 10445857 1999 Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.
PMID 24845513 2014 The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.
PMID 9398735 1997 A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
PMID 30927507 2019 p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy.
PMID 23295303 2012 The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature.
PMID 15753368 2005 RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
PMID 25887804 2015 The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies.
PMID 23461807 2013 Multiple endocrine neoplasia type 2A due to an exon 8 (G533C) mutation in a large North American kindred.
PMID 18805915 2008 Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene.
PMID 16649977 2006 A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening.
PMID 14602786 2003 A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma.
PMID 17704047 2007 A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A.
PMID 22676047 2012 High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.
PMID 21834681 2011 The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazilian kindred and is able to induce a malignant phenotype in vitro and in vivo.
PMID 19138318 2009 Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation.
PMID 23745650 2014 A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thyroid carcinoma emphasizes the need for an individualized assessment of affected relatives.
PMID 28099363 2017 Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families.
PMID 25628771 2015 Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese.
PMID 24684035 2015 Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634).
PMID 2008030 1991 Beyond generic occurrence screening.
PMID 23723040 2013 Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.
PMID 25629635 2015 High Discrepancy of Driver Mutations in Patients with NSCLC and Synchronous Multiple Lung Ground-Glass Nodules.
PMID 12604374 2004 RET oncogene mutations in medullary thyroid carcinoma in Mexican families.
PMID 19240193 2009 Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.
PMID 25143909 2014 RET mutations in a large indian family with medullary thyroid carcinoma.
PMID 20739875 2010 Coincidence of multiple endocrine neoplasia type 2A with acromegaly.
PMID 15452453 2004 Clinical and biochemical features of sporadic and hereditary phaeochromocytomas: an analysis of 41 cases investigated in a single endocrine centre.
PMID 16712668 2006 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.
PMID 15277225 2004 The oncogenic activity of RET point mutants for follicular thyroid cells may account for the occurrence of papillary thyroid carcinoma in patients affected by familial medullary thyroid carcinoma.
PMID 12711285 2003 Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a.
PMID 9820617 1998 Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma.
PMID 7914213 1994 Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis.
PMID 8640806 1996 Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma.
PMID 7491519 1995 Early treatment of hereditary medullary thyroid carcinoma after attribution of multiple endocrine neoplasia type 2 gene carrier status by screening for ret gene mutations.
PMID 9839497 1998 Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.
PMID 9498388 1998 Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene.
PMID 9384613 1998 Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
PMID 7915165 1994 Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
PMID 9174404 1997 RET in human development and oncogenesis.
PMID 9259198 1997 Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.
PMID 8675603 1996 C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.
PMID 20119574 2010 A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation.
PMID 16325365 2006 Presymptomatic thyroidectomy in multiple endocrine neoplasia 2a.
PMID 11935126 2002 RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.
PMID 7881414 1994 Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
PMID 8849576 1996 Genetic analysis of seven Mediterranean families with multiple endocrine neoplasia type 2A.
PMID 22068382 2012 Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.
PMID 7835899 1994 A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families.
PMID 15858153 2005 The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A.
PMID 20041006 2009 Mechanical Complication with Broviac Repair Kit in a 4-Year-Old Boy with MEN 2a.
PMID 24152999 2014 A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis.
PMID 7716719 1995 Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease.
PMID 29020875 2017 Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.
PMID 8909322 1996 Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds.
PMID 18206480 2008 RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.
PMID 19336503 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
PMID 11502806 2001 Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients.
PMID 11238493 2001 Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties.
PMID 19853744 2009 A cysteine radical mutation (C620R) (2 patients) was related to Multiple Endocrine Neoplasia Type 2 (MEN2) in the family.
PMID 17372903 2007 C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes.
PMID 9090527 1997 Frequency of RET mutations in long- and short-segment Hirschsprung disease.
PMID 17316110 2007 RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype.
PMID 17021738 2006 The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease.
PMID 14715928 2004 Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease.
PMID 10790203 2000 RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
PMID 20152359 2010 "Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 ""Janus"" genetic variation."
PMID 16565500 2006 The Ret(C620R) mutation affects renal and enteric development in a mouse model of Hirschsprung's disease.
PMID 19469690 2009 Medullary thyroid cancer: management guidelines of the American Thyroid Association.
PMID 24972642 2014 The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.
PMID 7849720 1994 RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.
PMID 23744765 2013 Thyroid cancer and co-occurring RET mutations in Hirschsprung disease.
PMID 9681852 1998 Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.
PMID 21986619 2012 Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.
PMID 7633441 1995 Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
PMID 27207748 2016 Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.
PMID 27847096 2016 A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation.
PMID 25694125 2015 Skewed mutational spectrum of RET proto-oncogene Exon10 in Iranian patients with medullary thyroid carcinoma.
PMID 10549772 1999 Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.
PMID 14517954 2003 The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.
PMID 19443294 2009 Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan.
PMID 9745455 1998 In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene.
PMID 9012462 1997 The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype.
PMID 8797874 1996 "Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. ""Study Group Multiple Endocrine Neoplasia Austria (SMENA)""."
PMID 16868135 2006 Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype.
PMID 7916559 1994 Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A.
PMID 10982477 2000 Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes.
PMID 16707008 2006 Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.
PMID 17188172 2007 Mutation analysis of the RET proto-oncogene and early thyroidectomy: results of a Portuguese cancer centre.
PMID 15771139 2004 [Late onset of medullary thyroid carcinoma with bilateral adrenal pheochromocytomas in the case of patient with MEN 2].
PMID 27406704 2016 Surgery in MEN 2A Patients Older Than 5 Years with Micro-MTC: Outcome at Long-term Follow-up.
PMID 12788868 2003 RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome.
PMID 17898100 2007 Evidence of MEN-2 in the original description of classic pheochromocytoma.
PMID 23404858 2013 Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients.
PMID 18794325 2008 Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation.
PMID 24617864 2014 Prevalence by age and predictors of medullary thyroid cancer in patients with lower risk germline RET proto-oncogene mutations.
PMID 15699703 2005 Medullary thyroid cancer in a patient with Hirschsprung disease with a C609Y germline RET-mutation.
PMID 22734615 2013 Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe.
PMID 19472011 2009 When is prophylactic thyroidectomy indicated for patients with the RET codon 609 mutation?
PMID 10462620 1997 Age-Related Disease Penetrance in a Large Medullary Thyroid Cancer Family With a Codon 609 RET Gene Mutation.
PMID 15858153 2005 The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A.
PMID 9681851 1998 Molecular mechanisms of development of multiple endocrine neoplasia 2 by RET mutations.
PMID 7845675 1995 A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC.
PMID 15855933 2005 The familial medullary thyroid carcinoma-associated RET E768D mutation in a multiple endocrine neoplasia type 2A case.
PMID 9111992 1997 Mutation of RET codon 768 is associated with the FMTC phenotype.
PMID 12116277 2002 A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma.
PMID 7784092 1995 RET mutations in exons 13 and 14 of FMTC patients.
PMID 12016484 2002 Prospective trial of unilateral surgery for nonhereditary medullary thyroid carcinoma in patients without germline RET mutations.
PMID 15240641 2004 A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma.
PMID 9452077 1998 A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.
PMID 20497437 2011 RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.
PMID 16813623 2006 New era: prophylactic surgery for patients with multiple endocrine neoplasia-2a.
PMID 25501606 2015 Characterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish family.
PMID 23468374 2013 Novel tandem germline RET proto-oncogene mutations in a patient with multiple endocrine neoplasia type 2B: report of a case and a literature review of tandem RET mutations with in silico analysis.
PMID 17466010 2007 Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene.
PMID 19958926 2009 One hundred and seven family members with the rearranged during transfection V804M proto-oncogene mutation presenting with simultaneous medullary and papillary thyroid carcinomas, rare primary hyperparathyroidism, and no pheochromocytomas: is this a new syndrome--MEN 2C?
PMID 21134561 2010 Single nucleotide polymorphisms act as modifiers and correlate with the development of medullary and simultaneous medullary/papillary thyroid carcinomas in 2 large, non-related families with the RET V804M proto-oncogene mutation.
PMID 15184865 2004 Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors.
PMID 16343097 2005 Experience of prophylactic thyroidectomy in multiple endocrine neoplasia type 2A kindreds with RET codon 804 mutations.
PMID 16507829 2006 BAY 43-9006 inhibition of oncogenic RET mutants.
PMID 10876191 2000 Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation.
PMID 15741265 2005 Some studies have suggested that the V804L mutation causes the low penetrance multiple endocrine neoplasia type 2 syndrome, with late onset and relatively indolent course, whereas others have reported that V804L and V804M have an aggressive potential.
PMID 21711375 2011 Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?
PMID 24361808 2014 Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.
PMID 11114642 2000 Update on the MEN 2A c804 RET mutation: is prophylactic thyroidectomy indicated?
PMID 12019403 2002 V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers.
PMID 20039896 2010 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.
PMID 10235148 1999 Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation.
PMID 11932300 2002 Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804.
PMID 11732489 2001 Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET.
PMID 26046350 2015 Identification of Novel Small Molecule Inhibitors of Oncogenic RET Kinase.
PMID 19445625 2009 Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosis.
PMID 25759805 2014 Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment.
PMID 9699127 1998 Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma.
PMID 15164440 2004 Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618.
PMID 7608256 1995 The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects.
PMID 7670926 1995 Presymptomatic genetic screening in families with multiple endocrine neoplasia type 2.
PMID 9003111 1996 Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family.
PMID 17270543 2007 Familial medullary carcinoma prevention, risk evaluation, and RET in children of families with MEN2.
PMID 14739494 2003 "Long-term follow up of a ""sporadic"" unilateral pheochromocytoma revealing multiple endocrine neoplasia MEN2A-2 in an elderly woman."