|
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
|
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
|
|
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 |
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
|
|
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
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
All MEN 2B patients showed an ATG to ACG (Met918Thr) mutation.
|
11900218 |
2002 |
|
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
|
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
|
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
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
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
|
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
Single oligoarray-based detection of specific M918T mutation in RET oncogene in multiple endocrine neoplasia type 2B.
|
21253810 |
2011 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
|
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
|
|
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
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
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
|
|
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
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Patients with Multiple Endocrine Neoplasia type 2 (MEN 2) are at high risk of developing aggressive medullary thyroid carcinoma (MTC) in childhood, with the highest risk in those with MEN type 2B (of whom >95% have an M918T RET proto-oncogene mutation).
|
22992277 |
2012 |
|
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
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
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 |