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 2,801–2,850 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 W88* (c.263G>A)4
(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 W88* (c.264G>A)4
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	accepted	EID5169 Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5713 A cohort of 183 affected individuals with VHL disease (VHLD) from 81 unrelated pedigrees were examined and analyzed. 124 of 183 patients had ocular angiomas. Neither prevalence of ocular angiomas nor … (full text at CIViC) PMID 10088816 · Webster et al., 1999 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	3	submitted	EID8571 "A Chinese family with 2 VHL oatients is reported. Patient 1 is a 24Y man referred with a 3 month history of constipation and perfuse sweating and was found with bilateral pheochromocytoma and renal c… (full text at CIViC) PMID 25069792 · Zhang et al., 2015 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6543 A retrospective cohort study was conducted at a public children’s hospital (Buenos Aires, Argentina). Eligible patients were all index cases with clinical diagnosis or clinical suspicion of type 1 VHL… (full text at CIViC) PMID 27617348 · Mathó et al., 2016 · Open in CIViC	civic

VHL W88* (c.264G>A)4

(predisposing)

Von Hippel-Lindau DiseaseUNRESOLVED

Predisposing

Supports Predisposition

accepted

EID5169

Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC)

PMID 17024664 · Ong et al., 2007 · Open in CIViC

VHL W88L (c.263G>T)2
(predisposing)	Renal Cell CarcinomaCURATED_BROADER	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6009 Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6646 A case report revealed a 57Y female caucasian patient presenting with metastic clear cell renal cell carinoma, with signs of liver spread, and pelvic and lumbar spinal cord bone metastases. Genetic an… (full text at CIViC) PMID 29118224 · Rodríguez-Moreno et al., 2017 · Open in CIViC	civic