rs75076352
|
|
|
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 |
rs75076352
|
|
|
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 |
rs75076352
|
|
|
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 |
rs75076352
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs75076352
|
|
|
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 |
rs75076352
|
|
|
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 |
rs75076352
|
|
|
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 |
rs75076352
|
|
|
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 |
rs75076352
|
|
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 |
rs75076352
|
|
|
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 |
rs75076352
|
|
|
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 |
rs75076352
|
|
|
0.800 |
GeneticVariation |
BEFREE |
C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T.
|
9839497 |
1998 |
rs75076352
|
|
|
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 |