Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE In the present study, we investigated whether the oncogenic RET mutants RET2A (C634R) and RET2B (M918T) were regulated by LRIG1, and the possible effects of LRIG1 expression in thyroid cancer were investigated in three different clinical cohorts and in a RET2B-driven mouse model of MTC. 29436694

2018
dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE Expression analysis found an increase of RET transcript in p.Cys630=;p.Cys634Arg patient compared with that found in 7 MTCs harboring p.Cys634 mutations. 30321177

2018
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: rs75076352
rs75076352
RET
C 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
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: 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: rs75076352
rs75076352
RET
0.800 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: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE Furthermore, it would appear that C630R mirrors C634R in penetrance (100% in this family) and in early age of onset of MTC, although paradoxically, no pheochromocytomas and hyperparathyroidism have developed. 16053382

2005
dbSNP: rs75076352
rs75076352
RET
C 0.800 GeneticVariation CLINVAR Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors. 15184865

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: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE Family 2 showed the C634R mutation only in the index case, who presented with cutaneous lichen amyloidosis in addition to MTC, pheochromocytoma and hyperparathyroidism. 11987030

2002
dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. 9839497

1998
dbSNP: rs75076352
rs75076352
RET
0.800 GeneticVariation BEFREE A heterozygous TGC to CGC mutation of codon 634 (cysteine to arginine) was found in the PHAEO and medullary thyroid cancer from the MEN 2A patient. 7889627

1995