rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features.
|
30660595 |
2019 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We also examined the sensitivity of RET (M918T), a RET mutation prevalent in aggressive multiple endocrine neoplasia type 2B, to these TKIs in the context of BaF3/KR cells.
|
29908090 |
2018 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We identified seven familial and 68 de novo cases of MEN2B; 61 exhibited the RET M918T genotype (2 others exhibited A883F and E768D/L790T mutations).
|
29077903 |
2018 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Moreover, one proband was identified with multiple endocrine neoplasia type 2B and carried a de novo mutation of M918T.
|
26254625 |
2016 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Germline mutations in codon 918 of exon 16 of the RET gene (M918T) are classically associated with multiple endocrine neoplasia type 2B</span> (MEN 2B) with highly aggressive medullary thyroid cancer (MTC), pheochromocytoma and a unique phenotype.
|
27807060 |
2016 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Forty-four MEN 2B patients carrying inherited (3 patients) and de novo (41 patients) M918T RET mutations were examined for signs and symptoms prompting MEN 2B.
|
23979292 |
2014 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Single oligoarray-based detection of specific M918T mutation in RET oncogene in multiple endocrine neoplasia type 2B.
|
21253810 |
2011 |
rs74799832
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
More than 90% of M918T carriers with multiple endocrine neoplasia type 2B (MEN 2B) harbor de novo mutations in the REarranged during Transfection (RET) protooncogene.
|
19041016 |
2008 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
One patient having a mutation in exon 16 (Met918Thr) presented with the MEN2B phenotype, six patients from two families had hereditary MTC without pheochromocytoma (pheo) and primary hyperparathyroidism (PHPT), whereas 33 patients from 15 families showed the MEN2A phenotype.
|
16865647 |
2006 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Although there were no syndromic features or a positive family history, mutation analysis of the RET proto-oncogene showed a de novo germline Met918Thr mutation in both patients, confirming the diagnosis of multiple endocrine neoplasia type 2B (MEN 2B).
|
16808642 |
2006 |
rs74799832
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
More than 95% of MEN2B patients also had a predominant mutation type at codon 918 (Met-->Thr).
|
11839664 |
2002 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
All MEN 2B patients showed an ATG to ACG (Met918Thr) mutation.
|
11900218 |
2002 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Thus, while our results support the conclusion that the Met918Thr substitution is responsible for MEN2B, they suggest that the substrate specificity of the RET kinase does not interfere with its normal role in the development of the kidneys and enteric nervous system.
|
10675330 |
2000 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
MEN2B is caused by a specific mutation (Met918-->Thr) in the RET receptor tyrosine kinase.
|
10023663 |
1999 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Mutation analysis of exon 16 of the RET proto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2B (MEN 2B).
|
10369718 |
1999 |
rs74799832
|
|
|
0.900 |
GeneticVariation |
BEFREE |
They are represented by the Met918Thr substitution (exon 16) typical of Multiple Endocrine Neoplasia type 2B (MEN2B) and, to a lesser extent, by nucleotide changes occurring at one of five critical cysteine residues (exons 10 and 11) typical of MEN type 2A (MEN2A).
|
9191060 |
1997 |
rs377767429
|
|
|
0.810 |
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
|
|
|
0.720 |
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 |
rs79658334
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We describe a novel combination of tandem RET mutations (Q781R/V804M) in a MEN2B-like patient.
|
23468374 |
2013 |
rs75076352
|
|
|
0.710 |
GeneticVariation |
BEFREE |
MEN2A patients are affected by RET (C634Y, C634R) mutation; MEN2B patients are affected by RET (M918T) mutation.
|
29237911 |
2017 |
rs77503355
|
|
|
0.710 |
GeneticVariation |
BEFREE |
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T).
|
22199277 |
2011 |
rs377767442
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The objectives of this study are to describe the rare M918V RET mutation discovered in 8 MTC kindreds from Brazil lacking the MEN 2B phenotype classically observed in M918T patients and to investigate the presence of a founder effect for this germline mutation.
|
27807060 |
2016 |
rs377767416
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a novel combination of tandem RET mutations (Q781R/V804M) in a MEN2B-like patient.
|
23468374 |
2013 |