rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The ensuing molecular genetic analysis revealed a M918T mutation of the RET protooncogene, which is associated with early-onset medullary thyroid carcinoma (MTC).
|
17848262 |
2007 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Apart from the MET918-->Thr mutation in 5 of the MTC cases, we found a 3-bp deletion in exon 11, only present in the tumor, in another case.
|
8768845 |
1996 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation.
|
21186952 |
2011 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A previous report suggested that the presence of a germline variant at RET codon 836 (S836S) was associated with the development of sporadic MTC and, furthermore, that the presence of S836S was highly correlated with somatic RET M918T mutation in the MTC.
|
11589684 |
2001 |
rs74799832
|
|
|
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 |
rs74799832
|
|
|
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 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Germline mutations in codon 918 of exon 16 of the RET gene (M918T) are classically associated with multiple endocrine neoplasia type 2B (MEN 2B) with highly aggressive medullary thyroid cancer (MTC), pheochromocytoma and a unique phenotype.
|
27807060 |
2016 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The percentage of RET M918T mutation is similar in Mexican MTC patients to other series, although other mutations could be implicated in our population.
|
28166591 |
2017 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
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 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Small MTC in C634R may be less aggressive than those in C634Y and M918T.
|
9839497 |
1998 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers.
|
28323957 |
2017 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two cases with lung (<i>KIF5B-RET</i>) and medullary thyroid carcinoma (<i>RET</i> M918T) that responded to a vandetanib (multikinase RET inhibitor)-containing regimen are shown.<b>Conclusions:</b><i>RET</i> aberrations were seen in 1.8% of diverse cancers, with most cases harboring actionable, albeit distinct, coexisting alterations.
|
27683183 |
2017 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
No RET mutations were found in any of the 24 CCH cases, whereas M918T mutation was detected in three concomitant MTCs.
|
17384213 |
2007 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
All the sporadic MTC had RET/M918T mutation except one case with HRAS mutation.
|
27379493 |
2016 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Interestingly, concomitant somatic M918T was detected in a 12-yr-old girl with MTC and was likely to be responsible for both the early clinical appearance and the aggressiveness of the disease.
|
11932300 |
2002 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
MTC samples with the C634 RET mutation exhibited a higher expression of VEGFR3 and KIT than the M918T RET-mutated and non-mutated RET tumor samples (P=0.005 and P=0.007 respectively) and a lower expression of VEGFR1 (P=0.04).
|
23780998 |
2013 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The overall prevalence of RET somatic mutations was lower than expected, and the prevalence of the somatic M918T RET mutation was significantly lower in microMTCs than in larger tumors.
|
22404432 |
2012 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of STAT3 and elevated expression of CXCR4 was detected in metastatic thyroid C-cell carcinoma in the liver.
|
15485908 |
2004 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Until the end of the study, at a median age of 16.2 (range, 0.5-34.9 years), all 25 M918T RET carriers had developed medullary thyroid cancer.
|
19041016 |
2008 |
rs74799832
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The level of cfDNA containing RET M918T mutation was measured in the plasma of patients with MTC via droplet digital polymerase chain reaction.
|
28911154 |
2017 |
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 |
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
|
|
|
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 |
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 |
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 |