|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In about 75% of cases it is sporadic while, in case of RET mutation, it is associated to multiple endocrine neoplasia type 2 (25% of cases).
|
31619220 |
2019 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study systematically reviewed previous literatures and analyzed the genotype-phenotype relationship between the multiple endocrine neoplasia type 2A (MEN 2A)-cutaneous lichen amyloidosis (CLA) and RET/OSMR/IL31RA mutations.
|
29420094 |
2018 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PASS and GAPP were applied on 41 PCCs; 13 PCCs were diagnosed in ten multiple endocrine neoplasia type 2A (MEN 2A) patients carrying established germline RET proto-oncogene mutations, as well as 28 assumed sporadic PCCs.
|
29779047 |
2018 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
Biomarker
|
disease |
BEFREE |
Structure and function of RET in multiple endocrine neoplasia type 2.
|
29175871 |
2018 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present a case of choroidal metastasis as a first presentation of disease progression in a patient with Multiple Endocrine Neoplasia type 2A syndrome (MEN2A) who had undergone thyroidectomy 33 years earlier for medullary thyroid carcinoma.
|
29663723 |
2018 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A Homozygous RET K666N Genotype With an MEN2A Phenotype.
|
29408964 |
2018 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Nineteen had MEN2A syndrome with RET proto-oncogene mutations identified.
|
29336779 |
2018 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline RET K666N mutation has been described as a pathogenic mutation with low disease penetrance for medullary thyroid cancer (MTC) without other features of multiple endocrine neoplasia type 2A.
|
29408964 |
2018 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dominant-activating mutations in the RET proto-oncogene, a receptor tyrosine kinase, are responsible for the development of medullary thyroid carcinoma (MTC) and causative for multiple endocrine neoplasia (MEN) type 2A and 2B.
|
28122586 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Approximately 98% of patients with multiple endocrine neoplasia type 2A (MEN 2A) have an identifiable RET mutation.
|
28569245 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
Biomarker
|
disease |
BEFREE |
Functional analysis of RET with multiple endocrine neoplasia type 2.
|
29237911 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
|
28946813 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Distinct mutations across hotspot RET exons can cause Multiple Endocrine Neoplasia Type 2A (MEN2A) characterised by development of medullary thyroid cancer (MTC), phaeochromocytoma (PCC) and primary hyperparathyroidism (PHPT), with a strong correlation between genotype and phenotype.
|
27704398 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families.
|
28099363 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
CausalMutation
|
disease |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
Phaeochromocytoma in multiple endocrine neoplasia type 2: RET codon-specific penetrance and changes in management during the last four decades.
|
28605116 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas.
|
28747092 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma.
|
27798940 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in the RET proto-oncogene, which encodes a receptor tyrosine kinase, predispose individuals to the multiple endocrine neoplasia type 2 (MEN 2) cancer syndromes.
|
28166591 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most common syndromic form is in the context of the multiple endocrine neoplasia type 2 (MEN 2) syndromes in association with other tumors and due to germline RET mutations.
|
29518763 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
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 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Multiple endocrine neoplasia type 2 kindred with novel tandem RET mutations: Case report with an applied in silico mutational tolerance analysis.
|
26876062 |
2016 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical significance of RET mutation screening in a pedigree of multiple endocrine neoplasia type 2A.
|
27277749 |
2016 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
Biomarker
|
disease |
BEFREE |
The aims of this study were to describe all known RET positive MEN 2A patients diagnosed in Norway and to evaluate the clinical course of MTC, as well as its predictive and prognostic factors.
|
27400880 |
2016 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET germline mutations cause multiple endocrine neoplasia type 2 syndrome (MEN 2A) characterized by complete penetrance of medullary thyroid cancer (MTC), and lower prevalence of Pheo and hyperparathyroidism.
|
26497911 |
2016 |