Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77709286
rs77709286
RET
0.730 GeneticVariation BEFREE The combined presence of C630R and C634W represent a novel somatic mutation in sporadic MTC. 28952196

2017

dbSNP: rs77709286
rs77709286
RET
G 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs77709286
rs77709286
RET
G 0.730 GeneticVariation CLINVAR Anti-tumor activity of motesanib in a medullary thyroid cancer model. 21422803

2012

dbSNP: rs77709286
rs77709286
RET
G 0.730 GeneticVariation CLINVAR In this study, we have studied ZD6474 mechanism of action in TT and MZ-CRC-1 human MTC cell lines, carrying cysteine 634 to tryptophan (C634W) and methionine 918 to threonine (M918T) RET mutation respectively. 20943719

2011

dbSNP: rs77709286
rs77709286
RET
0.730 GeneticVariation BEFREE Both in vitro and in vivo assays, using the human TT RET(C634W) MTC cell line, were done to assess the activity of sunitinib. 21325074

2011

dbSNP: rs77709286
rs77709286
RET
0.730 GeneticVariation BEFREE Sequencing analysis of the RET proto-oncogene revealed a Cys634Trp (TGC->TGG) mutation in all clinically affected family members and in an asymptomatic 5-year-old child who, after thyroidectomy, was found to have multicentric medullary thyroid carcinoma and C-cell hyperplasia. 11939755

2002