|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
|
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Pheochromocytoma
|
0.800 |
GenomicAlterations
|
disease |
CGI |
|
|
|
|
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the von Hippel-Lindau tumor suppressor gene (VHL) predispose individuals to a variety of tumors, including renal carcinoma, hemangioblastoma of the central nervous system, and pheochromocytoma.
|
7660122 |
1995 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In a previous study of 65 VHL kindreds with defined VHL mutations we detected significant differences between VHL families with and without phaeochromocytoma such that missense mutations were more common and large deletions or protein truncating mutations less frequent in phaeochromocytoma positive families.
|
8730290 |
1996 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline VHL gene mutations predispose to the development of retinal, cerebellar and spinal haemangioblastomas, renal cell carcinoma and phaeochromocytoma.
|
8733131 |
1996 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As PC is a frequent complication in families suffering from von Hippel Lindau disease, for which mutations of the VHL gene are responsible, we also screened the 5 sporadic PC cases for VHL mutations.
|
8768845 |
1996 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, despite the complete absence of other clinical manifestations of the vHL disease (besides pheochromocytomas), a previously undescribed germline missense mutation in the vHL tumor suppressor gene was found (C775G transversion with a predicted substitution of a leucine by a valine at codon 259 in the putative vHL protein).
|
8772572 |
1996 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
LOH of the chromosome 3p25 VHL gene locus was detected in 5 of 9 (45%) informative pheochromocytoma cases and in 0 of 3 (0%) informative extra-adrenal paraganglioma cases.
|
9104939 |
1997 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the vhl gene in patients with familial phaeochromocytoma may permit specific diagnosis of von Hippel-Lindau disease, and is a good method for the identification of asymptomatic individuals at risk of von Hippel-Lindau disease.
|
9156047 |
1997 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
|
9215674 |
1997 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.
|
9663592 |
1998 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
VHL gene mutation analysis also provides a basis for investigating the genetic basis of familial phaeochromocytoma and renal cell carcinoma, and apparently isolated retinal angiomas.
|
9681854 |
1998 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The von Hippel-Lindau (VHL) tumour suppressorgene product is believed to be involved in the down-regulation of transcriptional elongation by preventing the association of elongin B and C with the catalytic subunit elongin A. Alterations in the human VHL gene lead to VHL disease which is associated with various rare neoplasias, including haemangioblastoma of the central nervous system, retinal angioma, clear cell renal carcinoma and pheochromocytoma.
|
9931330 |
1999 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Investigation of this kindred confirmed that a mutation in the VHL gene could produce isolated pheochromocytomas as the only clinical feature and was variably penetrant.
|
10627136 |
1998 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pheochromocytomas occur in association with specific alleles of the VHL gene; therefore, a family history of pheochromocytoma in association with VHL is an indication for thorough surveillance for pheochromocytoma in affected family members.
|
10630173 |
1999 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Of interest, we found significantly different LOH frequencies at 3 loci between sporadic and VHL tumors; the more than 91% LOH of markers on 3p and the relatively low frequencies of LOH at 1p and 22q (15% and 21%, respectively) in VHL pheochromocytomas argue for the importance of VHL gene dysregulation and dysfunction in the pathogenesis of almost all VHL pheochromocytomas.
|
11134110 |
2000 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Specific mutations of the RET proto-oncogene cause familial predisposition to pheochromocytoma in multiple endocrine neoplasia type II, and mutations in the von Hippel-Lindau tumor suppressor gene cause familial disposition to pheochromocytoma in von Hippel-Lindau disease.
|
11182843 |
2001 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of nonsyndromic familial pheochromocytoma is unknown.
|
11404820 |
2001 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This germline point mutation in the VHL gene is often detected in type 2 VHL disease with pheochromocytoma.
|
11510758 |
2001 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It is unknown, however, whether VHL gene alterations would be associated with tumorigenesis in hereditary, MEN 2-related pheochromocytoma.
|
11821960 |
2002 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In summary, this is the first report of a novel consistent genetic alteration that is selected and specific for VHL-related pheochromocytoma, besides the two hits of the VHL gene.
|
11850829 |
2002 |