|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The presence of germ-line RET mutations in four living relatives demonstrates that the original patient and her family had multiple endocrine neoplasia type 2 and provides molecular evidence that she had pheochromocytoma.
|
17898100 |
2007 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To describe the first case of a bilateral pheochromocytoma associated with V804M mutation in the RET proto-oncogene.
|
17466010 |
2007 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, mutations 630 and 634 activate RET more strongly than mutations 609, 618 or 620 as demonstrated by quantitative assays in rodent fibroblasts and pheochromocytoma PC12 cells.
|
9879991 |
1998 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The remaining 15 RET mutation carriers did not exhibit CLA; of these, 1 presented with MTC and pheochromocytoma, 9 with MTC only, 2 with elevated serum calcitonin, and 3 younger subjects with normal serum calcitonin levels.
|
30049837 |
2018 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An intriguing hypothesis proposes that mutations of RET, NF1, VHL, or SDH predispose to hereditary pheochromocytoma/ paraganglioma by causing defective apoptotic culling of cells that would normally be destroyed during embryogenesis.
|
17525480 |
2006 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We conclude that, in all families with MEN 2, mutational analysis of the RET proto-oncogene should be performed, both to identify gene carriers for MEN 2 and to identify specific mutations that are more strongly associated with pheochromocytoma.
|
8810737 |
1996 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Among the members of the three families with MEN 2A and RET 634 mutation, the incidence of CLA was 36%, a figure similar to that reported in the literature for phaeochromocytoma (30-50%) and even higher than that for hyperparathyroidism (10-20%).
|
12864791 |
2003 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The findings propose a classification of 15 of the 26 VUS in RET without any well-defined risk profiles and suggest that the G691S SNP, or a combination of SNPs, may be associated with the development of PHEO.
|
28946813 |
2017 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The relationship between the presence of pheochromocytoma (PC) and/or hiperparathyroidism (HPT) in carriers of the same RET mutation, and the genotype for the specific variants was also studied.
|
16525712 |
2006 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, on genotyping a group of 172 sporadic or familial pheochromocytomas, we characterized four unrelated probands with familial pheochromocytomas without any sequence variants of RET (exons 8, 10, 11, 13, 14, 15, and 16) or the entire coding sequence of VHL, SDHB, SDHC, SDHD, and EGLN3 (exon-intron boundaries included).
|
17102081 |
2006 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Genetic testing in pheochromocytoma or functional paraganglioma.
|
16314641 |
2005 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A later diagnosis revealed bilateral pheochromocytoma and RET proto-oncogene mutation in codon 634.
|
26457501 |
2015 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In contrast to the previously held belief that only 10% of cases had a genetic component, currently about one-third of all aPCA/eFPGL cases are thought to be attributable to germline mutations in at least nine genes (NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, MAX and VHL).
|
21896620 |
2012 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Global transcription analysis of KIF1B beta mutant pheochromocytomas revealed that these tumors are transcriptionally related to pheochromocytomas with RET and NF1 mutations but independent from SDH- and VHL-associated tumors.
|
18726616 |
2008 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms of the RET gene are common (17%) and occur in familial and sporadic PC.
|
19399650 |
2009 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary Medullary Thyroid Carcinoma is caused by RET mutations, and may be associated to Pheochromocytomas in MEN 2 setting.
|
28455835 |
2017 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Eight patients (21%) developed PHEO in the course of follow-up to date, all of whom were sporadic cases with the classic M918T RET mutation.
|
30113649 |
2019 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All patients with a codon 918 mutation (MEN2B) developed PHEO by age 56 years.
|
23416954 |
2013 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bilateral Pheochromocytomas in MEN2A Syndrome: A Two-Institution Experience.
|
26071011 |
2015 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also identified several neutral variants within RET and pheochromocytoma-related genes.
|
28569245 |
2017 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.
|
20080836 |
2010 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The finding of RET mutations and diagnosis of MEN 2 in patients with pheochromocytoma.
|
10953992 |
2000 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Human genetic studies have now shown that 25-30% of patients have hereditary PH due to a germline mutation in the SDHB, SDHD, VHL, RET or NF1 gene and that the identification of a germline SDHB mutation is associated with a high risk of malignancy and a poor prognosis in PH/PGL patients.3.
|
18307724 |
2008 |