|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While mutations of SETD2, KDM5C, and BAP1 were absent in multicystic clear cell RCC, mutations of VHL (P = .016) and PBRM1 (P = .017) were significantly more common among solid clear cell RCC.
|
24029645 |
2014 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to explore the association between VHL mutations and the risk of death from sporadic clear-cell RCC.
|
12381710 |
2002 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The VHL (von Hippel-Lindau) tumour-suppressor gene is inactivated in VHL disease and in sporadic cases of CCRCC [clear-cell RCC (renal cell carcinoma)]. pVHL (VHL protein) functions as part of an E3 ubiquitin ligase complex that targets proteins for proteasomal degradation.
|
18481984 |
2008 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of TRC8 may facilitate development of clear cell-RCC in association with VHL mutations, and may increase risk for other tumor types.
|
19642973 |
2009 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus the identification of the VHL gene has improved the diagnosis and clinical management of VHL disease and provided insights into the pathogenesis of sporadic clear cell RCC.
|
15579030 |
2004 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loss of heterozygosity (LOH) at 3p25.5, the von Hippel-Lindau (VHL) gene locus, is frequent in sporadic clear cell RCC.
|
9196017 |
1997 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Non-silent mutation of VHL may be a predictor for the outcome of ccRCC treated with axitinib.
|
31007253 |
2019 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common of these is von Hippel-Lindau (VHL) disease caused by mutations in the VHL gene and predisposing to clear cell RCC.
|
15285561 |
2004 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Although there is relatively little information on the mechanisms of tumorigenesis of clear cell RCC without VHL inactivation, a subset of familial cases harbors a balanced constitutional chromosome 3 translocation.
|
17205537 |
2007 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, we detected mutation of VHL gene in clear cell RCC, but found no VHL gene mutation in clear cell papillary RCC.
|
20952286 |
2011 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular alterations in the VHL gene were not restricted to clear-cell RCCs (ccRCCs).
|
24727139 |
2015 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
G-band karyotype showed the structural abnormality of chromosome 3 and both components of clear cell RCC and RAT-like area revealed the identical VHL gene mutation.
|
20952290 |
2011 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alteration of the von Hippel-Lindau (VHL) gene, a cancer suppressor gene relating with clear cell RCC, has not yet been observed.
|
11107062 |
2000 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We reasoned that in CC-RCC without VHL inactivation, other pVHL-interacting proteins might be defective.
|
11526493 |
2001 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
The frequency of RASSF1A methylation was similar in CC-RCC with and without VHL gene inactivation (24% versus 21%), and there was no association between epigenetic silencing of the RASSF1A and VHL TSGs, because 0 of 6 tumors with VHL hypermethylation had RASSF1A methylation, and VHL was not methylated in 26 CC-RCCs with RASSF1A methylation.
|
11585766 |
2001 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
In conclusion, this meta-analysis indicates that VHL gene alteration has no prognostic or predictive value in patients with clear cell RCC.
|
28103578 |
2017 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
The molecular mechanisms involved in pRCC development and drug resistance are more diverse than in clear-cell RCC, in which inactivation of VHL occurs in the majority of tumours.
|
31602010 |
2019 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The mother of the proband was also clear-cell RCC-affected but the tumoral tissue analysed did not carry any VHL gene mutations.
|
12522559 |
2003 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The VHL gene therefore seems to be inactivated in a two-hit manner by intragenic mutation or hypermethylation plus allelic loss in clear-cell RCC.
|
11921283 |
2002 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The results for 3p deletion, VHL gene mutation or VHL gene promoter region hypermethylation testing, along with the diffuse CD10-positivity in 2 cases confirmed 21 cases as clear cell papillary RCC (CCPRCC; CK7+, CA9+; no 3p loss, no VHL abnormality) and 10 cases as clear cell RCC (CCRCC; CK7+, CA9+; no 3p loss, VHL abnormality mutation/hypermethylation present).
|
31656019 |
2019 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
One TFE3-negative tumour with normal 7/17 but LOH 3p (VHL abnormality) was diagnosed as clear cell RCC.
|
25544614 |
2015 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One tumour without 3p alteration by FISH revealed VHL mutation and 3p deletion at aCGH; thus, it was re-classified as clear cell RCC.
|
27923499 |
2017 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because of an association between Von Hippel-Lindau (VHL) genes with chromosomal loss in 3p25-26 and clear cell RCC, miRNAs have attracted considerable scientific interest over the last years.
|
29165391 |
2017 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, statistically significant CNA are detected and associated with the pathological features: VHL mutation status, tumor grades, and sarcomatoid component in clear cell RCC and in types 1 and 2 of papillary RCC.
|
18682315 |
2008 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found five mutations of the VHL gene and frequent LOH (50%) only in non-papillary clear cell RCC.
|
12076276 |
2002 |