Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs11214077
rs11214077
SDHD ; TIMM8B
0.010 GeneticVariation BEFREE We found no evidence that the presence of the H50R is strongly associated with the risk of sporadic MTC, although we did observe an association with age at diagnosis of MTC in Spanish H50R carriers that we did not find in English patients. 15623805

2005
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: 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: rs1188536960
rs1188536960
SORD
0.010 GeneticVariation BEFREE While the frequency of non-coding, intronic polymorphisms did not differ in MTC patients compared with a control population, an accumulation of amino-acid coding polymorphisms (S163P in SDHB as well as G12S and H50R in SDHD) was found among MTC patients especially patients with familial tumors, suggesting a functional connection of coding SDH polymorphisms to activating Ret mutations. 16322339

2005
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: 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: rs121913306
rs121913306
RET
0.020 GeneticVariation BEFREE MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers. 28323957

2017
dbSNP: rs121913306
rs121913306
RET
0.020 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: rs121913308
rs121913308
RET
G 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913309
rs121913309
RET
G 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913312
rs121913312
RET
C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913313
rs121913313
RET
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
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: 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: rs143795581
rs143795581
RET
0.010 GeneticVariation BEFREE Our results, together with a recent report of co-segregation of the mutation in three MTC families, suggest that K666E is a causative MTC mutation. 21690267

2011
dbSNP: rs145633958
rs145633958
RET
0.010 GeneticVariation BEFREE To our knowledge, these are the first time two cases of MTC associated to RET p.L56M variant. 30072953

2018
dbSNP: rs146646971
rs146646971
RET
0.020 GeneticVariation BEFREE Given the potential benefit associated with early detection of aberrant C-cell growth, and the noninvasive nature of genetic testing, "at risk" individuals should be screened, and if the K666N variant is identified, they should be managed using a personalized screening approach for detection of MTC. 27673361

2016
dbSNP: rs146646971
rs146646971
RET
0.020 GeneticVariation BEFREE Here we report a case of a homozygous RET K666N mutation leading to coincident MTC and PHEO. 29408964

2018