Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750371239
rs750371239
ATM
0.010 GeneticVariation BEFREE Furthermore, we showed that the co-occurrence of Y791F with the strong RET C634Y mutation explains the aggressive MTC phenotypes observed in a large affected family that was initially reported as Y791F-only. 25425582

2015
dbSNP: rs113488022
rs113488022
BRAF
0.020 GeneticVariation BEFREE Genetic analysis of both tumour components showed a distinctive mutational pattern: in the MTC a Cys634Arg substitution in exon 11 of the RET gene and in the two PTC foci a Val600Glu substitution in exon 15 of the BRAF gene. 15947103

2005
dbSNP: rs113488022
rs113488022
BRAF
0.020 GeneticVariation BEFREE In addition, MC had a higher MMRd rate (0.892, 95% CI 0.758-0.956), higher BRAF(V600E) mutation rate (0.652, 95% CI 0.143-0.954) and lower KRAS mutation rate (0.171, 95% CI 0.065-0.378) than PDA/UDA and conventional adenocarcinoma. 27001432

2016
dbSNP: rs121913377
rs121913377
BRAF
0.020 GeneticVariation BEFREE In addition, MC had a higher MMRd rate (0.892, 95% CI 0.758-0.956), higher BRAF(V600E) mutation rate (0.652, 95% CI 0.143-0.954) and lower KRAS mutation rate (0.171, 95% CI 0.065-0.378) than PDA/UDA and conventional adenocarcinoma. 27001432

2016
dbSNP: rs121913377
rs121913377
BRAF
0.020 GeneticVariation BEFREE Genetic analysis of both tumour components showed a distinctive mutational pattern: in the MTC a Cys634Arg substitution in exon 11 of the RET gene and in the two PTC foci a Val600Glu substitution in exon 15 of the BRAF gene. 15947103

2005
dbSNP: rs9282655
rs9282655
CDH1
0.010 GeneticVariation BEFREE We have established a transplantable MTC in nude mice from a sporadic human MTC carrying a RET C634R mutation. 17639056

2007
dbSNP: rs781609053
rs781609053
EGFR
0.010 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: rs121913233
rs121913233
HRAS ; LRRC56
0.020 GeneticVariation BEFREE Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). 24828033

2014
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
0.020 GeneticVariation BEFREE The single most common somatic RAS mutation is HRASQ61R (c.182A>G), reported in 4.6% to 11% of all MTCs. 27635947

2017
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
0.010 GeneticVariation BEFREE Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). 24828033

2014
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
0.010 GeneticVariation BEFREE Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). 24828033

2014
dbSNP: rs121913240
rs121913240
KRAS
0.710 GeneticVariation BEFREE Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). 24828033

2014
dbSNP: rs121913240
rs121913240
KRAS
A 0.710 GeneticVariation CLINVAR

dbSNP: rs104886028
rs104886028
KRAS
0.010 GeneticVariation BEFREE Large-scale molecular dynamics simulations were completed for H-RAS wt and H-RAS M72I.Western blot analysis demonstrated that both MAPK and PI3K/Akt pathways were activated in the MTC patient carrying the M72I variant. 23934677

2013
dbSNP: rs121913530
rs121913530
KRAS
0.010 GeneticVariation BEFREE Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). 24828033

2014
dbSNP: rs1555166368
rs1555166368
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs11554290
rs11554290
NRAS
0.010 GeneticVariation BEFREE The single most common somatic RAS mutation is HRASQ61R (c.182A>G), reported in 4.6% to 11% of all MTCs. 27635947

2017
dbSNP: rs864622088
rs864622088
PTCH1
0.010 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
C 0.800 CausalMutation CLINVAR Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B. 17108110

2006
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 Apart from the MET918-->Thr mutation in 5 of the MTC cases, we found a 3-bp deletion in exon 11, only present in the tumor, in another case. 8768845

1996
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 CausalMutation CLINVAR Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 10445857

1999
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 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