Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79658334
rs79658334
RET
0.800 GeneticVariation BEFREE a) <i>RET</i> genetic screening is informative in both hereditary and sporadic MTC; b) the prevalence of different mutations varies with V804M being the most frequent; c) the association genotype-phenotype is confirmed; d) by <i>RET</i> screening, some VUS can be found but their pathogenic role must be demonstrated before screening the family. 31510104

2019

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE In the present study, we investigated whether the oncogenic RET mutants RET2A (C634R) and RET2B (M918T) were regulated by LRIG1, and the possible effects of LRIG1 expression in thyroid cancer were investigated in three different clinical cohorts and in a RET2B-driven mouse model of MTC. 29436694

2018

dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE In the present study, we investigated whether the oncogenic RET mutants RET2A (C634R) and RET2B (M918T) were regulated by LRIG1, and the possible effects of LRIG1 expression in thyroid cancer were investigated in three different clinical cohorts and in a RET2B-driven mouse model of MTC. 29436694

2018

dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE Expression analysis found an increase of RET transcript in p.Cys630=;p.Cys634Arg patient compared with that found in 7 MTCs harboring p.Cys634 mutations. 30321177

2018

dbSNP: rs79658334
rs79658334
RET
0.800 GeneticVariation BEFREE The RET tyrosine kinase is an important therapeutic target for medullary thyroid cancer (MTC), and drug resistance mutations of RET, particularly V804M and V804L, are a main challenge for the current targeted therapy of MTC based on RET inhibitors. 29133048

2018

dbSNP: rs79658334
rs79658334
RET
0.800 GeneticVariation BEFREE Based on penetrance analysis in carrier relatives of p.Val804Met-positive cases of MTC, p.Val804Met is currently understood to have high-lifetime penetrance for MTC (87% by age 70), albeit of later onset of MTC than other RET mutations. 29590403

2018

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE The percentage of RET M918T mutation is similar in Mexican MTC patients to other series, although other mutations could be implicated in our population. 28166591

2017

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers. 28323957

2017

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE Two cases with lung (<i>KIF5B-RET</i>) and medullary thyroid carcinoma (<i>RET</i> M918T) that responded to a vandetanib (multikinase RET inhibitor)-containing regimen are shown.<b>Conclusions:</b><i>RET</i> aberrations were seen in 1.8% of diverse cancers, with most cases harboring actionable, albeit distinct, coexisting alterations. 27683183

2017

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE The level of cfDNA containing RET M918T mutation was measured in the plasma of patients with MTC via droplet digital polymerase chain reaction. 28911154

2017

dbSNP: rs79658334
rs79658334
RET
0.800 GeneticVariation BEFREE This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the moderate risk RET p.Val804Met (protein valine at residue 804 replaced by methionine) genetic mutation, with 2 of the relatives presenting with dermal hyperneury, cutaneous lesions classically described in MEN 2B syndrome, and 1 relative also showing multiple sclerotic fibromas, a cutaneous manifestation of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome. 29049491

2017

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE Germline mutations in codon 918 of exon 16 of the RET gene (M918T) are classically associated with multiple endocrine neoplasia type 2B (MEN 2B) with highly aggressive medullary thyroid cancer (MTC), pheochromocytoma and a unique phenotype. 27807060

2016

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE All the sporadic MTC had RET/M918T mutation except one case with HRAS mutation. 27379493

2016

dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE We found higher penetrance of medullary thyroid carcinoma, phaeochromocytoma and hyperparathyroidism (P<0.001, P=0.007 and P<0.001 respectively) in C634R carriers than in C634Y carriers. 25515555

2015

dbSNP: rs74799832
rs74799832
RET
C 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs75076352
rs75076352
RET
C 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE MTC samples with the C634 RET mutation exhibited a higher expression of VEGFR3 and KIT than the M918T RET-mutated and non-mutated RET tumor samples (P=0.005 and P=0.007 respectively) and a lower expression of VEGFR1 (P=0.04). 23780998

2013

dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE We report a case of an ethnic Chinese girl with MEN2A codon 634 (C634R) mutation, whose operative specimen at prophylactic thyroidectomy at 4 years 8 months showed MTC. 23331839

2013

dbSNP: rs79658334
rs79658334
RET
0.800 GeneticVariation BEFREE A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation. 23341727

2013

dbSNP: rs74799832
rs74799832
RET
C 0.800 GeneticVariation CLINVAR Anti-tumor activity of motesanib in a medullary thyroid cancer model. 21422803

2012

dbSNP: rs74799832
rs74799832
RET
C 0.800 GeneticVariation CLINVAR AZD1480 blocks growth and tumorigenesis of RET- activated thyroid cancer cell lines. 23056499

2012

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE The overall prevalence of RET somatic mutations was lower than expected, and the prevalence of the somatic M918T RET mutation was significantly lower in microMTCs than in larger tumors. 22404432

2012

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation. 21186952

2011

dbSNP: rs79658334
rs79658334
RET
0.800 GeneticVariation BEFREE A SNP in exon 13 (L769L) may serve as a modifier in the development of simultaneous MTC and PTC, as well as presentation of MTC, in patients with the RET V804M mutation. 21134561

2010

dbSNP: rs79658334
rs79658334
RET
0.800 GeneticVariation BEFREE The rearranged during transfection (RET) V804M proto-oncogene mutation is rare and associated with medullary thyroid carcinoma (MTC). 19958926

2009