|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
BEFREE |
In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism.
|
22584703 |
2012 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
|
20979234 |
2011 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation.
|
19475497 |
2009 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.
|
18976013 |
2008 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Evaluation of potential mechanisms underlying genotype-phenotype correlations in multiple endocrine neoplasia type 2.
|
16715139 |
2006 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.
|
16343103 |
2005 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
BEFREE |
The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A.
|
15858153 |
2005 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Clinical and biochemical features of sporadic and hereditary phaeochromocytomas: an analysis of 41 cases investigated in a single endocrine centre.
|
15452453 |
2004 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Occurrence of pheochromocytoma in a MEN2A family with codon 609 mutation of the RET proto-oncogene.
|
12050290 |
2002 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary.
|
11524247 |
2001 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
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 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
|
9384613 |
1998 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance.
|
9146685 |
1997 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.
|
9230192 |
1997 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
CausalMutation
|
CLINVAR |
Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma.
|
8855832 |
1996 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.830 |
GeneticVariation
|
BEFREE |
Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR.
|
7633441 |
1995 |