|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sequencing analysis of the RET proto-oncogene revealed a Cys634Trp (TGC->TGG) mutation in all clinically affected family members and in an asymptomatic 5-year-old child who, after thyroidectomy, was found to have multicentric medullary thyroid carcinoma and C-cell hyperplasia.
|
11939755 |
2002 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Histologic examination of the thyroid glands in the two RET mutation negative individuals who had thyroidectomy demonstrated C-cell hyperplasia in one but not in the other.
|
8849577 |
1996 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 6 MTCs and 1 C-cell hyperplasia (CCH) specimen from 7 patients with MEN2A and RET germline mutations in codons 609, 618, 620, or 634, using microdissection, microsatellite analysis, phosphorimage densitometry, and VHL mutation analysis.
|
16707008 |
2006 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing for RET germline mutations affords rapid identification of germline carriers, offering the prospect of cure before C-cell hyperplasia (CCH) has progressed to medullary thyroid carcinoma (MTC).
|
11376404 |
2001 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Individual germline mutations in the RET (REarranged during Transfection) proto-oncogene may set the time window for malignant progression from C-cell hyperplasia to familial medullary thyroid carcinoma.
|
15523405 |
2004 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Gene carriers with noncysteine RET mutations had a lower incidence of medullary thyroid carcinoma (78.2% vs. 94.1%) than those with mutation in exon 10; 20.2% had C cell hyperplasia only, although thyroidectomized at an older age.
|
11502806 |
2001 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mice expressing RET(C618F) display mild C cell hyperplasia and increased numbers of enteric neurons, indicating that RET(C618F) confers gain-of-function phenotypes.
|
30884088 |
2019 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Seventeen cases of MTC or bilateral C-cell hyperplasia (CCH) and separate occult PTC were identified from 16 different families.
|
15588381 |
2004 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The study objective was to investigate the impact of RET genotype on disease progression from C-cell hyperplasia (CCH) to MTC.
|
14555929 |
2003 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.
|
24361808 |
2014 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although in silico analysis may be helpful in quantitating changes in protein structure that occur in patients who have novel RET mutations (single or multiple), additional factors must account for the highly variable aggressiveness of the disease (C-cell hyperplasia/medullary thyroid carcinoma [MTC]) noted in our kindred.
|
26876062 |
2016 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The influence of gender, age, and RET polymorphisms on C-cell hyperplasia and medullary thyroid carcinoma.
|
18976163 |
2008 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The presence of C cell hyperplasia should always be reported; however its usefulness for indicating familial risk is limited and its role as a preneoplastic condition in patients without RET-protooncogene mutations remains to be elucidated.
|
12089863 |
2002 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In most examined populations the RET germline polymorphism S836S is found in about 3.6% of the normal population but in about 9% of patients suffering from sporadic C-cell hyperplasia or medullary thyroid carcinoma.
|
12410354 |
2002 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Absence of RET gene point mutations in sporadic thyroid C-cell hyperplasia.
|
17384213 |
2007 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this study, we analyze whether stroma reaction seen by Tn-C expression is detected early in tumorigenesis of medullary thyroid carcinoma (MTC) including medullary microcarcinoma and C-cell hyperplasia (CCH), which is accepted to be a precursor lesion of MTC in the setting of RET oncogene germ-line mutation.
|
19484261 |
2009 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Among RET mutation-positive patients, thyroidectomy performed for clinical or biochemical indication disclosed medullary thyroid carcinoma in 44 (98%) of 45 patients and precursor C-cell hyperplasia in only 1 (2%) patient.
|
9301617 |
1997 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recently, a somatic mutation at codon 918 of RET was reported in medullary thyroid carcinoma (MTC) and C-cell hyperplasia in patients with MEN 2A or familial MTC (FMTC), suggesting its possible contribution to tumorigenesis.
|
9263528 |
1997 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
C-cell hyperplasia (CCH) and medullary thyroid carcinoma (MTC) in patients affected by germline mutations of the RET oncogene represent an exceptional opportunity to study the regulation of proliferation and apoptosis during tumour initiation and progression.
|
11037345 |
2000 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Familial medullary thyroid cancer (MTC) and its precursor, C cell hyperplasia (CCH), is associated with germline RET mutations causing multiple endocrine neoplasia type 2.
|
26945007 |
2016 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Tenascin C, EGFR, E-cadherin, TTF-1-expression, and their correlations with RET mutation status were investigated in 30 patients with medullary thyroid carcinoma (MTC) (n = 26) or C-cell hyperplasia (n = 4).
|
27409604 |
2016 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline RET proto-oncogene mutations are the genetic causes of multiple endocrine neoplasia type 2 and a strong genotype-phenotype correlation exists, particularly between a specific RET codon mutation and the (a) age-related onset and (b) thyroid tumor progression, from C-cell hyperplasia to medullary thyroid carcinoma and, ultimately, to nodal metastases.
|
22584703 |
2012 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The noncarriers included seven persons who had previously undergone thyroidectomies for suspected C-cell hyperplasia but were negative for the RET mutation present in affected members of their families.
|
7985085 |
1994 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
There was a significant age-related progression from C-cell hyperplasia to medullary thyroid carcinoma and, ultimately, nodal metastasis in patients whose RET mutations were grouped according to the extracellular- and intracellular-domain codons affected and in those with the codon 634 genotype.
|
14561794 |
2003 |
|
C-cell hyperplasia of thyroid
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Of the 11 patients who had RET proto-oncogene mutations ranked as Moderate Risk for medullary thyroid cancer (MTC) (American Thyroid Association), one had a microcarcinoma on the resected specimen, and the others had C-Cell Hyperplasia.
|
29336779 |
2018 |