Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75873440
rs75873440
RET
0.070 GeneticVariation BEFREE Our data suggest that Brazilian and Greek patients with MTC carrying the G533C mutation in exon 8 of <i>RET</i> gene originate from a common ancestor. 28137737

2017

dbSNP: rs75873440
rs75873440
RET
0.070 GeneticVariation BEFREE A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thyroid carcinoma emphasizes the need for an individualized assessment of affected relatives. 23745650

2014

dbSNP: rs75873440
rs75873440
RET
0.070 GeneticVariation BEFREE Fifteen p.G533C carriers with MTC were chosen for the initial screening. 24601688

2014

dbSNP: rs75873440
rs75873440
RET
0.070 GeneticVariation BEFREE In our study, we found that 7·75% patients with apparently sporadic MTC do carry G533C mutation involving exon 8 of ret. 22676047

2012

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: 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 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