Gene

VHL

von Hippel-Lindau tumor suppressor

Explore in graph →CI-GENE-00038379HGNC:12687 ENSG00000134086 NCBI 7428 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (2,994)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 2,951–2,994 of 2,994 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
VHL Y98H (c.292T>C)33
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted

Cohorts

Alteration frequency by cohort (42)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

gdcObserved42 cohort rows · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Kidney Renal Clear Cell Carcinoma TCGA-KIRC	Clear Cell Renal Cell Carcinoma	Ssm

Literature

Linked publications (98)

25 per page, newest first.

pubmedPublishedShowing 1–25 of 98 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Integrated molecular analysis of clear-cell renal cell carcinoma.
· Nat Genet · 2013 · PMID 23797736 · validated civic_curation pubmed
Low CAIX expression and absence of VHL gene mutation are associated with tumor aggressiveness and poor survival of clear cell renal cell carcinoma.
· Int J Cancer · 2008 · PMID 18464292 · validated civic_curation pubmed
Prognostic and predictive value of VHL gene alteration in renal cell carcinoma: a meta-analysis and review.
· Oncotarget · 2017 · PMID 28103578 · validated civic_curation pubmed
Randomized Open-Label Phase II Trial of Apitolisib (GDC-0980), a Novel Inhibitor of the PI3K/Mammalian Target of Rapamycin Pathway, Versus Everolimus in Patients With Metastatic Renal Cell Carcinoma.
· J Clin Oncol · 2016 · PMID 26951309

VHL Y98N (c.292T>A)4
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	4	submitted	EID8294 23 patients from 12 families diagnosed with hereditary VHL disease at the Peking University First Hospital Department of Urology were described as part of a broader study examining telomere length and… (full text at CIViC) PMID 24986515 · Ning et al., 2014 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6713 A retrospective study reviewed cases of 23 patients with advanced and complicated VHL eye disease who underwent pars plana vitrectomy in the years 1999 to 2012 that were a part of 223 VHL patients con… (full text at CIViC) PMID 26308528 · Krzystolik et al., 2016 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6813 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · Open in CIViC	civic
〃	Kidney CarcinomaALIAS	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6898 Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC	civic

VHL Y98N (c.292T>A)4

(predisposing)

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Predisposition

submitted

EID8294

23 patients from 12 families diagnosed with hereditary VHL disease at the Peking University First Hospital Department of Urology were described as part of a broader study examining telomere length and… (full text at CIViC)

PMID 24986515 · Ning et al., 2014 · Open in CIViC

civic

〃

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Uncertain Significance

submitted

EID6713

A retrospective study reviewed cases of 23 patients with advanced and complicated VHL eye disease who underwent pars plana vitrectomy in the years 1999 to 2012 that were a part of 223 VHL patients con… (full text at CIViC)

PMID 26308528 · Krzystolik et al., 2016 · Open in CIViC

civic

〃

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Uncertain Significance

submitted

EID6813

A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC)

PMID 28388566 · Peng et al., 2017 · Open in CIViC

civic

〃

Kidney CarcinomaALIAS

Predisposing

Supports Uncertain Significance

submitted

EID6898

Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC)

PMID 7915601 · Gnarra et al., 1994 · Open in CIViC

civic

VHL Y98S (c.293A>C)7
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	B	Supports Predisposition	3	submitted	EID9182 301 were enrolled in a prospective clinical protocol to evaluate the natural history of vHL-associated pancreatic lesions (NCT00062166). Of these, 69 patients with pancreatic manifestations of vHL dis… (full text at CIViC) PMID 29294023 · Tirosh et al., 2018 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6693 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofib… (full text at CIViC) PMID 28432847 · Khadilkar et al., 2017 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID6753 150 index patients with pheochromocytoma/paraganglioma were evaluated. Phenotypic data were collected and germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested. A… (full text at CIViC) PMID 27539324 · Pandit et al., 2016 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6778 Medical records of 31 genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. Genetic testing confirmed a familial missense mutation at c.293A>C of the VHL gene in three unr… (full text at CIViC) PMID 29124493 · Lomte et al., 2018 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6814 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	3	submitted	EID8434 Fourty-four of 389 patients with VHL (between 1988-1999) screened positive for PNETs either by pathologic analysis of tissue specimens or by characteristic radiographic appearance on CT and MRI. VHL g… (full text at CIViC) PMID 11114638 · Libutti et al., 2000 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID10750 A retrospective study of metastatic (n = 10) or unresectable (n=5) PPGL patients who received Lu-DOTATATE therapy (registered at KEM Hospital, Mumbai, India) between January 2010 and December 2019 wer… (full text at CIViC) PMID 32784267 · Jaiswal et al., 2020 · Open in CIViC	civic

VHL Y98S (c.293A>C)7

(predisposing)

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Predisposition

submitted

EID9182

301 were enrolled in a prospective clinical protocol to evaluate the natural history of vHL-associated pancreatic lesions (NCT00062166). Of these, 69 patients with pancreatic manifestations of vHL dis… (full text at CIViC)

PMID 29294023 · Tirosh et al., 2018 · Open in CIViC

civic

〃

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Uncertain Significance

submitted

EID6693

121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofib… (full text at CIViC)

PMID 28432847 · Khadilkar et al., 2017 · Open in CIViC

civic

〃

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Predisposition

submitted

EID6753

150 index patients with pheochromocytoma/paraganglioma were evaluated. Phenotypic data were collected and germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested. A… (full text at CIViC)

PMID 27539324 · Pandit et al., 2016 · Open in CIViC

civic

〃

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Uncertain Significance

submitted

EID6778

Medical records of 31 genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. Genetic testing confirmed a familial missense mutation at c.293A>C of the VHL gene in three unr… (full text at CIViC)

PMID 29124493 · Lomte et al., 2018 · Open in CIViC

civic

〃

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Uncertain Significance

submitted

EID6814

PMID 28388566 · Peng et al., 2017 · Open in CIViC

civic

〃

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

N/A N/A

submitted

EID8434

Fourty-four of 389 patients with VHL (between 1988-1999) screened positive for PNETs either by pathologic analysis of tissue specimens or by characteristic radiographic appearance on CT and MRI. VHL g… (full text at CIViC)

PMID 11114638 · Libutti et al., 2000 · Open in CIViC

civic

〃

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Predisposition

submitted

EID10750

A retrospective study of metastatic (n = 10) or unresectable (n=5) PPGL patients who received Lu-DOTATATE therapy (registered at KEM Hospital, Mumbai, India) between January 2010 and December 2019 wer… (full text at CIViC)

PMID 32784267 · Jaiswal et al., 2020 · Open in CIViC

civic