Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Medullary thyroid carcinomas (MTC) arise from thyroid parafollicular, calcitonin-producing C-cells and can occur either as sporadic or as hereditary diseases in the context of familial syndromes, including multiple endocrine neoplasia 2A (MEN2A), multiple endocrine neoplasia 2B (MEN2B) and familial MTC (FMTC).
|
28931560 |
2018 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hereditary medullary thyroid carcinoma can present as a part of multiple endocrine neoplasia syndrome by rearranged during transfection gene mutation.
|
29779869 |
2018 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B.
|
28323957 |
2017 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.
|
27704398 |
2017 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
FMTC = familial medullary thyroid carcinoma GINA = Genetic Information Nondiscrimination Act MEN1 = multiple endocrine neoplasia 1 MEN2A = multiple endocrine neoplasia 2A MEN2B = multiple endocrine neoplasia 2B MTC = medullary thyroid cancer PGL-PCC = paraganglioma-pheochromocytoma.
|
28613942 |
2017 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Two patients with no history of MEN syndromes or family history of medullary thyroid cancer had RET proto-onocogene mutations.
|
27083464 |
2017 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We aim to identify RET mutations' (C634R and M918T) expression, location, and signaling activation during the disease's progression, which providing a theoretical basis for the study on etiology of multiple endocrine neoplasia.
|
29237911 |
2017 |
Multiple Endocrine Neoplasia
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Multiple endocrine neoplasia (MEN) 2A and 2B are caused by REarranged during Transfection (RET) germline mutations.
|
29020875 |
2017 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.
|
27809725 |
2017 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Four different MEN syndromes have been so far identified: MEN type 1 (MEN1), MEN2A (also referred to as MEN2), MEN2B (or MEN3) and MEN4, which have slightly varying tumor spectra and are caused by mutations in different genes.
|
26184857 |
2016 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The clinical characteristics and RET proto-oncogene (RET‑PO) mutation status of a patient with multiple endocrine neoplasia type 2A pedigree (MEN2A) was analyzed with the aim of preliminarily exploring the molecular mechanisms and clinical significance of the disease.
|
27277749 |
2016 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Molecular genetic studies in the past few years have identified >10 genes involved in the pathogenesis of pheochromocytomas and paragangliomas, including RET oncogene, involved in the pathogenesis of multiple endocrine neoplasia (MEN) 2A and 2B, von Hippel-Lindau tumor-suppressor gene, neurofibromatosis type 1 gene, succinate dehydrogenase, THEM127, and several others.
|
26262510 |
2015 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Bilateral pheochromocytoma (PHEO) is more frequently found in patients with multiple endocrine neoplasia 2A carrying a RET germline mutation located in codon 634 (C634).
|
26071011 |
2015 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Four major forms of MEN, which are autosomal dominant disorders, are recognized and referred to as: MEN type 1 (MEN1), due to menin mutations; MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transfection (RET) protoncogene; MEN3 (previously MEN2B) due to RET mutations; and MEN4 due to cyclin-dependent kinase inhibitor (CDNK1B) mutations.
|
23933118 |
2014 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RET proto-oncogene cause multiple endocrine neoplasia 2A (MEN2A).
|
22734615 |
2013 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Molecular epidemiology of multiple endocrine neoplasia 2: implications for RET screening in the new millenium.
|
23211574 |
2013 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
American Thyroid Association (ATA) guidelines suggest that thyroidectomy can be delayed in some children with multiple endocrine neoplasia syndrome 2A (MEN2A) if serum calcitonin (Ct) and neck ultrasonography (US) are normal.
|
22890595 |
2013 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Over the last decade, our knowledge of the multiple endocrine neoplasia (MEN) type 2 syndromes MEN2A and MEN2B and familial medullary thyroid carcinoma (FMTC) has expanded greatly.
|
23744408 |
2013 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The mechanism whereby rearranged during transfection influences gene activation in multiple endocrine neoplasia 2 is complex, but genetic variations impair the rearranged during transfection tyrosine kinase response to tyrosine kinase activation, thus appearing to dictate downstream signaling cascade responses.
|
22584708 |
2012 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2.
|
22584710 |
2012 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Patients with multiple endocrine neoplasia (MEN) type 2 with known RET gene mutations as well as those with other heritable disorders are candidates for PGD.
|
21550946 |
2012 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Multiple endocrine neoplasias type 2B and RET proto-oncogene.
|
22429913 |
2012 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of RET gene are pathognomonic of multiple endocrine neoplasia (MEN; MEN 2A/MEN 2B) and familial medullary thyroid carcinoma (FMTC), constituting 25% of medullary thyroid carcinomas (MTCs).
|
21857107 |
2011 |