|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
The VHL p.P81S mutation is most likely a low-penetrant pathogenic variant predisposing to RCC development.
|
28503092 |
2017 |
|
Neoplasms
|
|
0.720 |
GeneticVariation
|
BEFREE |
The P81S VHL mutation produces deregulation of HIF factors in cell culture but exhibits a growth advantage in the tumor microenvironment, in part because of suppression of apoptosis (P81S mean = 0.9%, 95% confidence interval = 0.6 to 1.2%; WT mean = 7.6%; 95% confidence interval = 6.4 to 8.8%; P < .001) coupled with sustained proliferation.
|
23990666 |
2013 |
|
Neoplasms
|
|
0.720 |
GeneticVariation
|
BEFREE |
1) Clinical evaluation of known variant carriers: We evaluated a family of five VHL p.P81S carriers, as well as the clinical characteristics of all the p.P81S carriers reported in the literature; 2) Evaluation of tumor tissue via genetic analysis, histology, and immunohistochemistry (IHC); 3) Assessment of the variant's impact on protein structure and function, using multiple databases, in silico algorithms, and reports of functional studies.
|
28503092 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The VHL p.P81S mutation is most likely a low-penetrant pathogenic variant predisposing to RCC development.
|
28503092 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The risk relevance of the P81S von Hippel-Lindau (VHL) gene hotspot mutation identified in clear cell renal cell carcinoma from individuals exposed occupationally to trichloroethylene (TCE) is not known.
|
23990666 |
2013 |
|
Renal Cell Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The VHL p.P81S mutation is most likely a low-penetrant pathogenic variant predisposing to RCC development.
|
28503092 |
2017 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
Neoplasms
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
|
9829912 |
1998 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.
|
10408776 |
1999 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
|
8956040 |
1996 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.
|
10635329 |
1999 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.
|
9452032 |
1998 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
|
16502427 |
2006 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.
|
9452106 |
1998 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.
|
10533030 |
1999 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of the von Hippel-Lindau disease tumor suppressor gene.
|
8493574 |
1993 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.
|
10627136 |
1998 |