rs79658334
|
|
|
0.800 |
GeneticVariation |
BEFREE |
a) <i>RET</i> genetic screening is informative in both hereditary and sporadic MTC; b) the prevalence of different mutations varies with V804M being the most frequent; c) the association genotype-phenotype is confirmed; d) by <i>RET</i> screening, some VUS can be found but their pathogenic role must be demonstrated before screening the family.
|
31510104 |
2019 |
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 |
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 |
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 |
rs79658334
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Based on penetrance analysis in carrier relatives of p.Val804Met-positive cases of MTC, p.Val804Met is currently understood to have high-lifetime penetrance for MTC (87% by age 70), albeit of later onset of MTC than other RET mutations.
|
29590403 |
2018 |
rs79658334
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The RET tyrosine kinase is an important therapeutic target for medullary thyroid cancer (MTC), and drug resistance mutations of RET, particularly V804M and V804L, are a main challenge for the current targeted therapy of MTC based on RET inhibitors.
|
29133048 |
2018 |
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 |
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 |
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 |
MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers.
|
28323957 |
2017 |
rs79658334
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the moderate risk RET p.Val804Met (protein valine at residue 804 replaced by methionine) genetic mutation, with 2 of the relatives presenting with dermal hyperneury, cutaneous lesions classically described in MEN 2B syndrome, and 1 relative also showing multiple sclerotic fibromas, a cutaneous manifestation of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome.
|
29049491 |
2017 |
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 |
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 |
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 |
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 |
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 |
rs79658334
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.
|
23341727 |
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 |
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 |
rs79658334
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A SNP in exon 13 (L769L) may serve as a modifier in the development of simultaneous MTC and PTC, as well as presentation of MTC, in patients with the RET V804M mutation.
|
21134561 |
2010 |
rs79658334
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The patient is one of the few with a V804M mutation in whom the clinical expression did not fully conform to the definition of familial MTC.
|
19445625 |
2009 |
rs79658334
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The rearranged during transfection (RET) V804M proto-oncogene mutation is rare and associated with medullary thyroid carcinoma (MTC).
|
19958926 |
2009 |
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 |
rs79658334
|
|
|
0.800 |
GeneticVariation |
BEFREE |
RET gene analysis showed a p.V804M missense mutation in exon 14, a low- but variably penetrant defect found in both sporadic and MEN2A-associated MTC/CCH, and a p.G691S polymorphism in exon 11.
|
18299477 |
2008 |
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 |