|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
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
|
|
0.890 |
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
|
|
0.890 |
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
|
|
0.890 |
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
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
GeneticVariation
|
BEFREE |
Her genetic study revealed a heterozygous mutation, c.1900T>C, in the RET proto-oncogene which confirmed the diagnosis of multiple endocrine neoplasia type 2A (MEN2A).
|
19340440 |
2009 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
GeneticVariation
|
BEFREE |
When introduced in the context of C634R - a cysteine replacement that is prevalent in MEN2A cases - the A639G/A641R mutations significantly reduced dimer formation and transforming activity in this otherwise highly oncogenic RET variant.
|
16732321 |
2006 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
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
|
|
0.890 |
GeneticVariation
|
BEFREE |
We describe a patient affected by multiple endocrine neoplasia type 2A (MEN 2A) bearing a heterozygous germline mutation (Cys(634)Arg) in exon 11 and an additional somatic mutation of the RET protooncogene.
|
11232007 |
2001 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
GeneticVariation
|
BEFREE |
A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.
|
9111993 |
1997 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
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
|
|
0.890 |
GeneticVariation
|
BEFREE |
Furthermore, our results are in accordance with the observation that MEN 2A patients with Cys 634-->Arg (germline) mutations have a higher risk of developing parathyroid disease than those with other mutations at codon 634.
|
7495285 |
1995 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
GeneticVariation
|
BEFREE |
A heterozygous TGC to CGC mutation of codon 634 (cysteine to arginine) was found in the PHAEO and medullary thyroid cancer from the MEN 2A patient.
|
7889627 |
1995 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
GeneticVariation
|
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
GeneticVariation
|
BEFREE |
We have identified a mutation in codon 620, 2053 T-->C (Cys620Arg), and two mutations in codon 634 of exon 11 of RET, 2095 T-->C (Cys634Arg) and 2096 G-->A (Cys634Tyr), all three of which were present in both MEN2A and FMTC families.
|
7835899 |
1994 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
CausalMutation
|
CLINVAR |
|
|
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.890 |
CausalMutation
|
CLINVAR |
|
|
|