|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.
|
7906866 |
1994 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.
|
7906417 |
1994 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.
|
7824936 |
1995 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
GeneticVariation
|
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.900 |
GeneticVariation
|
UNIPROT |
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
|
8918855 |
1996 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).
|
8880581 |
1996 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.
|
9242375 |
1997 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
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 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
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
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.
|
10445857 |
1999 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.900 |
GeneticVariation
|
BEFREE |
MEN2B is caused by a specific mutation (Met918-->Thr) in the RET receptor tyrosine kinase.
|
10023663 |
1999 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
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
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations.
|
10679286 |
2000 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.900 |
GeneticVariation
|
BEFREE |
All MEN 2B patients showed an ATG to ACG (Met918Thr) mutation.
|
11900218 |
2002 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.900 |
GeneticVariation
|
BEFREE |
More than 95% of MEN2B patients also had a predominant mutation type at codon 918 (Met-->Thr).
|
11839664 |
2002 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
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
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
External ophthalmic findings in multiple endocrine neoplasia type 2B.
|
15281979 |
2004 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
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
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
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
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report.
|
17848262 |
2007 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
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
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.
|
19240193 |
2009 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
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 |