Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74799832
rs74799832
RET
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		C 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs74799832
rs74799832
RET
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		C 0.800 GeneticVariation CLINVAR AZD1480 blocks growth and tumorigenesis of RET- activated thyroid cancer cell lines. 23056499

2012
dbSNP: rs74799832
rs74799832
RET
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		C 0.800 GeneticVariation CLINVAR Anti-tumor activity of motesanib in a medullary thyroid cancer model. 21422803

2012
dbSNP: rs74799832
rs74799832
RET
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		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
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		C 0.800 CausalMutation CLINVAR Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B. 17108110

2006
dbSNP: rs74799832
rs74799832
RET
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		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
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		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
dbSNP: rs74799832
rs74799832
RET
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		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
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		C 0.800 GeneticVariation CLINVAR C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. 9839497

1998