|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Persistent local-regional MTC was present following the initial cervical operation in 12 of 22 patients (55%); including 4 of 13 with MEN2B diagnosed prior to initial surgery and 8 of 9 with MEN2B diagnosed after initial surgery.
|
17963006 |
2008 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Medullary thyroid cancer (MTC) is a rare tumor arising from the calcitonin-producing parafollicular C cells of the thyroid gland, occurring either sporadically or alternatively in a hereditary form based on germline RET mutations in approximately one-third of cases.
|
27185870 |
2016 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We generated induced pluripotent stem cells (iPSCs) from a patient with RET mutation at codon 918 who developed pheochromocytoma and MTC.
|
28925363 |
2017 |
|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
BEFREE |
The Ret proto-oncogene in the WAG/Rij rat strain: an animal model for inherited C-cell carcinoma?
|
12869284 |
2003 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Since the association of RET proto-oncogene mutations and medullary thyroid carcinoma in children there has been much discussion regarding timing of surgery.
|
11194546 |
2000 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma.
|
28099363 |
2017 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The influence of gender, age, and RET polymorphisms on C-cell hyperplasia and medullary thyroid carcinoma.
|
18976163 |
2008 |
|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
BEFREE |
Next, three randomly selected RET-negative MTC samples were analysed by the next generation sequencing.
|
25931041 |
2015 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The RET gene is frequently mutated in papillary thyroid carcinoma and in medullary thyroid carcinoma.
|
15693160 |
2004 |
|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
BEFREE |
Novel technique for scanning of codon 634 of the RET protooncogene with fluorescence resonance energy transfer and real-time PCR in patients with medullary thyroid carcinoma.
|
11673360 |
2001 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Children belonging to families with FMTC are usually identified by RET genetic screening shortly after birth or during childhood but they likely develop MTC later in adult life.
|
25231454 |
2014 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MTC is mostly associated with variations in the 5 cysteine RET radicals and codon-risk management protocols are of considerable value but not infallible.
|
18365214 |
2008 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of RET are responsible for the development of heritable forms of medullary thyroid carcinoma (MTC) while somatic mutations of this oncogene are found in a significant proportion of sporadic MTCs.
|
17131411 |
2006 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We now report a case of MTC in which a RET somatic mutation at codon 918 was detected in fine-needle aspiration specimens obtained from both the thyroid nodule and two enlarged neck lymph nodes but not in peripheral blood.
|
9329372 |
1997 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found no correlation between the presence of other somatic genetic events, such as loss of heterozygosity on chromosome arms 1p and 22q, and RET mutation status in the various subpopulations of MTC.
|
8616867 |
1996 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
There are few studies on the mutations and epigenetic changes of RET gene in Iranian patients with MTC.
|
30873628 |
2019 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Because many patients with MEN 2A and B show gastrointestinal symptoms before the development of MTC, the possibility of MEN 2 should be recognized, and genetic testing for the presence of RET mutations should be included in the explorative diagnosis for megacolon.
|
17848262 |
2007 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutation testing plays an increasingly important role in perioperative management and has potential for targeted molecular therapies.Prophylactic thyroidectomy is indicated early in life for RET mutation carriers at risk for medullary thyroid cancer.
|
23042124 |
2013 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this review, the structure and signalling properties of the RET proto-oncogene in its wild-type and mutant forms, and its role in hereditary and sporadic MTC, are discussed.
|
19468197 |
2009 |
|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
BEFREE |
Of 80 MEN2A gene carriers (in 61 of whom carrier status was proved by DNA analysis), 66 had abnormal plasma calcitonin values and medullary thyroid carcinoma.
|
7915822 |
1994 |
|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
BEFREE |
To preselect patients for RET screening by moderately (50-100 pg/mL) pentagastrin stimulation hCT concentrations does not increase the number of identified cases of familial MTC.
|
15320968 |
2004 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Association between the position and type of germline mutation in the RET proto-oncogene and the presence or absence of MTC, pheo, HPT, and/or other features in a family.
|
8918855 |
1996 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although reported gene variants in the RET oncogene have been directly associated with multiple endocrine neoplasia type 2 and hereditary medullary thyroid carcinoma, other mutations are classified as variants of uncertain significance (VUS) until the associated clinical phenotype is made clear.
|
21479187 |
2011 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype.
|
9012462 |
1997 |