Gene: RET ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs377767394
rs377767394
RET
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: rs75996173
rs75996173
RET
0.770 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: rs75076352
rs75076352
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: rs377767442
rs377767442
RET
0.010 GeneticVariation BEFREE We suggest that M918V MTC should be clinically considered an American Thyroid Association (ATA) moderate-risk category. 27807060

2016
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: rs75873440
rs75873440
RET
0.070 GeneticVariation BEFREE We previously described a six-generation family with G533C RET mutation and medullary thyroid carcinoma, in the largest family reported do date. 19138318

2009
dbSNP: rs75873440
rs75873440
RET
0.070 GeneticVariation BEFREE We have previously described a p.G533C substitution in the rearranged during transfection (RET) oncogene in a large family with medullary thyroid carcinoma. 21834681

2011
dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE We have established a transplantable MTC in nude mice from a sporadic human MTC carrying a RET C634R mutation. 17639056

2007
dbSNP: rs747844360
rs747844360
RET
0.010 GeneticVariation BEFREE We found only a new RET variant (p.Gly550Glu) in one patient with MTC. 22648435

2012
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: rs75873440
rs75873440
RET
0.070 GeneticVariation BEFREE We describe the RET G533C mutation in exon 8 of the RET in two unrelated female index patients, with MEN2A phenotype, consisting of pheochromocytoma which was the presenting feature and medullary thyroid carcinoma. 18805915

2008
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: rs75234356
rs75234356
RET
0.760 GeneticVariation BEFREE Two patients, from different branches of the family, did not harbour the point mutation A891S despite histological confirmation of MTC. 11849247

2002
dbSNP: rs77316810
rs77316810
RET
0.040 GeneticVariation BEFREE Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR. 7633441

1995
dbSNP: rs77939446
rs77939446
RET
0.740 GeneticVariation BEFREE Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR. 7633441

1995
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: 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: rs773631693
rs773631693
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: rs3026785
rs3026785
RET
0.010 GeneticVariation BEFREE To evaluate the frequency of the RET 3'UTR variants (rs76759170 and rs3026785) in MTC patients and to determine whether these variants are in LD with S836S polymorphism. 26829565

2016
dbSNP: rs75234356
rs75234356
RET
0.760 GeneticVariation BEFREE Three of the six p.S891A mutation carriers presented with medullary thyroid carcinoma (MTC). 26356818

2015
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: rs146838520
rs146838520
RET
0.010 GeneticVariation BEFREE These data, along with the finding of a novel RET mutation (Arg886Trp), have important implications towards facilitating and improving the molecular diagnosis of hereditary MTC on a regional basis. 16712668

2006
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