Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: rs74799832
rs74799832
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: 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: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE Until the end of the study, at a median age of 16.2 (range, 0.5-34.9 years), all 25 M918T RET carriers had developed medullary thyroid cancer. 19041016

2008

dbSNP: rs74799832
rs74799832
RET
C 0.800 GeneticVariation CLINVAR Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. 18073307

2008

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE The ensuing molecular genetic analysis revealed a M918T mutation of the RET protooncogene, which is associated with early-onset medullary thyroid carcinoma (MTC). 17848262

2007

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE No RET mutations were found in any of the 24 CCH cases, whereas M918T mutation was detected in three concomitant MTCs. 17384213

2007

dbSNP: rs74799832
rs74799832
RET
C 0.800 CausalMutation CLINVAR Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B. 17108110

2006

dbSNP: rs74799832
rs74799832
RET
C 0.800 CausalMutation CLINVAR We tested on thyroid follicular cells the transforming activity of RET(C634S), RET(K603Q), another mutant identified in a kindred with both PTC and MTC, RET(C634R) a commonly isolated allele in MEN2A, RET(M918T) responsible for MEN2B and also identified in kindreds with both PTC and MTC, and RET/PTC1 the rearranged oncogene that characterizes bona fide PTC in patients without MTC. 15277225

2004

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE We tested on thyroid follicular cells the transforming activity of RET(C634S), RET(K603Q), another mutant identified in a kindred with both PTC and MTC, RET(C634R) a commonly isolated allele in MEN2A, RET(M918T) responsible for MEN2B and also identified in kindreds with both PTC and MTC, and RET/PTC1 the rearranged oncogene that characterizes bona fide PTC in patients without MTC. 15277225

2004

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of STAT3 and elevated expression of CXCR4 was detected in metastatic thyroid C-cell carcinoma in the liver. 15485908

2004

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE Interestingly, concomitant somatic M918T was detected in a 12-yr-old girl with MTC and was likely to be responsible for both the early clinical appearance and the aggressiveness of the disease. 11932300

2002

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE A previous report suggested that the presence of a germline variant at RET codon 836 (S836S) was associated with the development of sporadic MTC and, furthermore, that the presence of S836S was highly correlated with somatic RET M918T mutation in the MTC. 11589684

2001

dbSNP: rs74799832
rs74799832
RET
0.800 GeneticVariation BEFREE These MTCs also harbored the somatic RET M918T mutation and also showed the highest numbers of CGH alterations in the series (p<0.003). 11351254

2001

dbSNP: rs74799832
rs74799832
RET
C 0.800 GeneticVariation CLINVAR These MTCs also harbored the somatic RET M918T mutation and also showed the highest numbers of CGH alterations in the series (p<0.003). 11351254

2001