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Gene Symbol VHL
Synonyms HRCA1 | pVHL | RCA1 | VHL1
Gene Description VHL, von Hippel-Lindau tumor suppressor, is part of an E3 ubiquitin protein ligase complex, which promotes degradation of HIF-alpha and other protein targets required for cellular growth and angiogenesis (PMID: 24583008, PMID: 30194449), and plays a role in genomic stability (PMID: 31747945). VHL contributes to von Hippel-Lindau disease (PMID: 30194449, PMID: 30006056) and sporadic tumors, including clear cell renal carcinoma (PMID: 24583008, PMID: 30149673).
ACMG Incidental List v3.0:
Yes, Von Hippel-Lindau syndrome (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
7428 3 3p25.3 NM_000551 Tumor suppressor (PMID: 30606230)

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT02693535 Phase II Cobimetinib + Vemurafenib Atezolizumab + Talazoparib Regorafenib Larotrectinib Trastuzumab + Tucatinib Ipilimumab + Nivolumab Palbociclib Afatinib Entrectinib Talazoparib Pembrolizumab Temsirolimus Pertuzumab + Trastuzumab Atezolizumab + Pertuzumab/trastuzumab/hyaluronidase-zzxf Crizotinib Abemaciclib Sunitinib Olaparib TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer (TAPUR) Recruiting USA 0
NCT04895748 Phase I DFF332 + Spartalizumab + Taminadenant DFF332 + Everolimus DFF332 DFF332 as a Single Agent and in Combination With Everolimus & Immuno-Oncology Agents in Advanced/Relapsed Renal Cancer & Other Malignancies Active, not recruiting USA | ITA | FRA | ESP | CZE 2
NCT03297606 Phase II Bosutinib Palbociclib Vismodegib Ipilimumab + Nivolumab Cobimetinib + Vemurafenib Temsirolimus Olaparib Erlotinib Crizotinib Sunitinib Afatinib Dasatinib Pertuzumab + Trastuzumab Axitinib Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR) (CAPTUR) Recruiting CAN 0
NCT03401788 Phase II Belzutifan A Phase 2 Study of Belzutifan (PT2977, MK-6482) for the Treatment of Von Hippel Lindau (VHL) Disease-Associated Renal Cell Carcinoma (RCC) (MK-6482-004) Active, not recruiting USA | GBR | FRA | DNK 0
NCT02108002 Phase I Vorinostat Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Completed USA 0
NCT02315625 Phase II Everolimus Sunitinib Study of Mutation-Targeted Therapy With Sunitinib or Everolimus in People With Advanced Low- or Intermediate-Grade Neuroendocrine Tumors of the Gastrointestinal Tract and Pancreas With or Without Cytoreductive Surgery Terminated USA 0
NCT03091192 Phase III Sunitinib Savolitinib Savolitinib vs. Sunitinib in MET-driven PRCC. Active, not recruiting USA | ITA | FRA | BRA 3
NCT04068831 Phase II Avelumab + Talazoparib Talazoparib and Avelumab in Participants With Metastatic Renal Cell Carcinoma Completed USA 0
NCT03108066 Phase II PT2385 PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma Completed USA 0
NCT04266912 Phase Ib/II Avelumab + Berzosertib Avelumab and M6620 for the Treatment of DDR Deficient Metastatic or Unresectable Solid Tumors Active, not recruiting USA 0