|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.
|
9360560 |
1997 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The gene(s) responsible for two additional dominantly inherited disorders involving cancer of the medullary thyroid, MEN 2B (MEN2B), and dominantly inherited MTC without additional clinical features (MTC1), also map to this region.
|
1351867 |
1992 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This family demonstrates some of the phenotypic features of the multiple endocrine neoplasia type 2B syndrome without the characteristic neoplasms or the mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B.
|
7573303 |
1995 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.
|
9360560 |
1997 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
No mutation at codon 918 of the RET gene in a family with multiple endocrine neoplasia type 2B.
|
8736281 |
1995 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single mutation at codon 918 in the tyrosine kinase domain of the RET receptor has been associated with the MEN-2B phenotype.
|
9167949 |
1997 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
|
15753368 |
2005 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation.
|
10076558 |
1999 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations.
|
10679286 |
2000 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein.
|
10490816 |
1999 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.
|
7906866 |
1994 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Germline mutation of RET codon 883 in two cases of de novo MEN 2B.
|
9294615 |
1997 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.
|
7911697 |
1994 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.
|
11230481 |
2001 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These autosomal dominant conditions occur in four types: MEN1 due to inactivating MEN1 mutations; MEN2A and MEN2B (MEN3) due to activating mutations of RET and MEN4 due to inactivating cyclin-dependent kinase inhibitor 1B (CDKN1B) mutations.
|
24931355 |
2014 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We compared two oncogenic RET mutants, associated with MEN 2A (2ARET) or MEN 2B (2BRET) disease subtypes, that are predicted to have distinct downstream target genes.
|
19226610 |
2009 |