|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in 'MEN 2A with CLA', one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.
|
30049837 |
2018 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in ‘MEN 2A with CLA’, one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.
|
30300539 |
2018 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
CausalMutation
|
CLINVAR |
Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A.
|
26732158 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in <i>RET</i> exon 11.
|
28943896 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
CausalMutation
|
CLINVAR |
Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.
|
25810047 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
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
|
|
0.900 |
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our results suggest that there could be clinical differences caused by different amino acid substitutions at codon 634; specifically, the C634R mutation was associated with a more aggressive MEN2A phenotype than the C634Y mutation.
|
25515555 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
The mutation found in the RET proto-oncogene responsible for MEN2A in pediatric patients in the south of Spain is the C635Y.
|
24643705 |
2014 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.
|
23723040 |
2013 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome.
|
15592804 |
2005 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
CausalMutation
|
CLINVAR |
Multiple endocrine neoplasia type 2A in a kindred with C634Y mutation.
|
16099853 |
2005 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.
|
12746565 |
2003 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
CausalMutation
|
CLINVAR |
Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.
|
12746565 |
2003 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.
|
10522989 |
1999 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
CausalMutation
|
CLINVAR |
High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.
|
9950371 |
1999 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A.
|
9452064 |
1998 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
|
9384613 |
1998 |