|
Pheochromocytoma
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Pheochromocytoma
|
1.000 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Pheochromocytoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The human ret proto-oncogene (proto-ret), encoding a receptor tyrosine kinase, is highly expressed in neuroblastomas, medullary thyroid carcinomas (MTCs) and pheochromocytomas, which are all tumors of cells originating from the neural crest.
|
1350670 |
1992 |
|
Pheochromocytoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Because the incidence of pheochromocytoma among carriers varies from 0% to 74% within these six families, it is probable that additional factors modify the expression of the MEN2A gene.
|
1353939 |
1992 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
We consistently detected expression of normal-sized transcripts of the ret proto-oncogene in human pheochromocytomas and in human medullary thyroid carcinomas (MTC), both of familial and sporadic type.
|
1701232 |
1990 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
These analyses were performed using both RET cDNA cloned from a pheochromocytoma library and reverse transcriptase PCR products generated using RNA from a neuroblastoma cell line (LA-N-2).
|
7478523 |
1995 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of MEN-II should be confirmed by molecular genetic analysis and the diagnosis of VHL syndrome should be considered for families with an absence of RET mutations and a preponderance of pheochromocytomas.
|
7563486 |
1995 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
The RET proto-oncogene, a receptor tyrosine kinase, has been evaluated as a candidate gene for multiple endocrine neoplasia type 2A and type 2B (MEN 2A and MEN 2B), for familial medullary thyroid carcinoma (FMTC), and for sporadic cases of medullary thyroid carcinoma (MTC) and pheochromocytomas.
|
7595167 |
1995 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus RET mutations of the MEN 2A and 2B regions are also found in about 20% of sporadic pheochromocytomas.
|
7608256 |
1995 |
|
Pheochromocytoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Expression of the ret proto-oncogene in phaeochromocytoma. An in situ hybridization and northern blot study.
|
7616358 |
1995 |
|
Pheochromocytoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The RET proto-oncogene is expressed in human medullary thyroid carcinoma and pheochromocytoma.
|
7627269 |
1995 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that mutations of the RET proto-oncogene in its tyrosine kinase domain play a role not only as the predisposing gene for MEN 2B, but also as a tumorigenic factor for pheochromocytomas of sporadic type.
|
7627271 |
1995 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although we cannot exclude the possibility of mutations in other regions of the RET protooncogene, our data suggest that 1) individuals presenting with apparently sporadic pheochromocytomas are not likely to have undiagnosed MEN-2A or -2B; and 2) somatic mutations in exons 10, 11, and 16 in the RET protooncogene contribute to the process of tumorigenesis in a small percentage of sporadic pheochromocytomas.
|
7852530 |
1995 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The occurrence of mutations in the RET protooncogene has been investigated in 12 multiple endocrine neoplasia type 2A families and 18 cases of sporadic thyroid medullary carcinomas and pheochromocytomas.
|
7913936 |
1994 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Detection of RET proto-oncogene point mutations in paraffin-embedded pheochromocytoma specimens by nonradioactive single-strand conformation polymorphism analysis and direct sequencing.
|
7943181 |
1994 |
|
Pheochromocytoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The DNA segment encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in MTC and phaeochromocytoma and at lower levels in normal human thyroid.
|
8099202 |
1993 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This region encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in medullary thyroid carcinoma (MTC) and pheochromocytoma.
|
8556060 |
1995 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
By labeling the c-Ret protein immunoprecipitated from tumor tissues with [gamma-32P]ATP in vitro, its homodimers were detected in pheochromocytomas from MEN 2A patients but not in a sporadic tumor.
|
8561803 |
1996 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this study, we have transfected NIH3T3 and PC12 phaeochromocytoma cells with MEN2A (Cys634-> Arg) and MEN2B (Met918-> Thr) RET constructs.
|
8570194 |
1995 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with familial, multiple, or early onset phaeochromocytoma should be investigated for germline VHL and RET gene mutations as the molecular diagnosis of multisystem familial cancer syndromes enables appropriate counselling and screening to be provided.
|
8592333 |
1995 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that mutations at codon 768 of the RET proto-oncogene do not represent a frequent mechanism of tumorigenesis for both sporadic and hereditary pheochromocytomas.
|
8732460 |
1996 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
To assess the role of RET in the development of MTC and PC, we screened 14 sporadic MTC, two MTC-derived cell lines, and 5 sporatic PC cases of RET mutations by a systematic analysis of the whole coding sequence, including all intron-exon junctions.
|
8768845 |
1996 |