Condition: Multiple Endocrine Neoplasia Type 2a
rs143795581 in
RET gene and
Multiple Endocrine Neoplasia Type 2a
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 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 20103606 2010 Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.
PMID 21690267 2011 Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.
PMID 27673361 2016 Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation.
PMID 29408964 2018 Germline RET K666N mutation has been described as a pathogenic mutation with low disease penetrance for medullary thyroid cancer (MTC) without other features of multiple endocrine neoplasia type 2A.
PMID 26687385 2016 Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.
PMID 15858153 2005 Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.
PMID 28946813 2017 Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
PMID 26765577 2016 A 6-Base Pair in Frame Germline Deletion in Exon 7 Of RET Leads to Increased RET Phosphorylation, ERK Activation, and MEN2A.
PMID 8557249 1996 Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.
PMID 9824583 1998 Oncological implications of RET gene mutations in Hirschsprung's disease.
PMID 27798940 2017 Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma.
PMID 10490816 1999 The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein.
PMID 16839264 2006 A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A.
PMID 7608256 1995 The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects.
PMID 18062802 2008 Familial prevalence and age of RET germline mutations: implications for screening.
PMID 10049754 1999 Mechanism of Ret activation by a mutation at aspartic acid 631 identified in sporadic pheochromocytoma.
PMID 22274720 2012 Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyroid carcinoma.
PMID 24134185 2014 Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.
PMID 14718397 2004 Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2.
PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.
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 10918602 2000 A novel type of mutation in the cysteine rich domain of the RET receptor causes ligand independent activation.
PMID 9097963 1997 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.
PMID 9452064 1998 Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A.
PMID 10679286 2000 A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations.
PMID 9242375 1997 Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.
PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.
PMID 21810974 2011 In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.
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 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
PMID 23756355 2013 The clinical spectrum of RET proto-oncogene mutations in codon 790.
PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
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 19469690 2009 Medullary thyroid cancer: management guidelines of the American Thyroid Association.
PMID 11739416 2001 Guidelines for diagnosis and therapy of MEN type 1 and type 2.
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
PMID 21863057 2012 Clinical utility gene card for: multiple endocrine neoplasia type 2.
PMID 17209045 2007 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.
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 20554711 2010 The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A.
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 25810047 2015 Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.
PMID 24845513 2014 The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.
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 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 9398735 1997 A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
PMID 7860065 1995 Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A).
PMID 7824936 1995 Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.
PMID 16099853 2005 Multiple endocrine neoplasia type 2A in a kindred with C634Y mutation.
PMID 7881414 1994 Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
PMID 8099202 1993 Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.
PMID 7874109 1994 RET proto-oncogene mutations in French MEN 2A and FMTC families.
PMID 12746565 2003 Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.
PMID 7915165 1994 Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
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 26732158 2017 Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A.
PMID 10522989 1999 A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.
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 8103403 1993 Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
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 9384613 1998 Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
PMID 9950371 1999 High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.
PMID 19826964 2009 RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.
PMID 20979234 2011 Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
PMID 20664475 2010 The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer.
PMID 8909322 1996 Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds.
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 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 19443294 2009 Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan.
PMID 18063059 2007 Pheochromocytoma penetrance varies by RET mutation in MEN 2A.
PMID 15326638 2004 Interaction of RET proto-oncogene codon 609 germline mutations with RET haplotypes characterized by c.135G>A alleles modifying MEN 2A or HSCR phenotypes.
PMID 12037758 2002 Multiple endocrine neoplasia 2A syndrome: Surgical management.
PMID 24331334 2014 Multiple endocrine neoplasia type 2A: case report.
PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.
PMID 11939755 2002 Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis.
PMID 7907913 1994 Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
PMID 11524247 2001 Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary.
PMID 8855832 1996 Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma.
PMID 9146685 1997 Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance.
PMID 15452453 2004 Clinical and biochemical features of sporadic and hereditary phaeochromocytomas: an analysis of 41 cases investigated in a single endocrine centre.
PMID 19475497 2009 Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation.
PMID 12050290 2002 Occurrence of pheochromocytoma in a MEN2A family with codon 609 mutation of the RET proto-oncogene.
PMID 16343103 2005 Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.
PMID 16715139 2006 Evaluation of potential mechanisms underlying genotype-phenotype correlations in multiple endocrine neoplasia type 2.
PMID 11230481 2001 Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.
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 21934104 2011 Familial pediatric endocrine tumors.
PMID 12016484 2002 Prospective trial of unilateral surgery for nonhereditary medullary thyroid carcinoma in patients without germline RET mutations.
PMID 15184865 2004 Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors.
PMID 15386323 2004 Germline RET V804M mutation associated with multiple endocrine neoplasia type 2A.
PMID 16813623 2006 New era: prophylactic surgery for patients with multiple endocrine neoplasia-2a.
PMID 10826520 2000 A RET double mutation in the germline of a kindred with FMTC.
PMID 11932300 2002 Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804.
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 21711375 2011 Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?
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 25440022 2015 Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer?
PMID 25628771 2015 Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese.
PMID 22068382 2012 Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.
PMID 9498388 1998 Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene.
PMID 21765987 2011 Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.