What is the role of the VHL gene in the pathogenesis of renal cell carcinoma (RCC)?

Updated: May 21, 2019
  • Author: Kush Sachdeva, MD; Chief Editor: E Jason Abel, MD  more...
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Answer

The VHL gene is mutated in a high percentage of tumors and cell lines from patients with sporadic (nonhereditary) clear cell renal carcinoma. Several kindreds with familial clear cell carcinoma have a constitutional balanced translocation between 3p and either chromosome 6 or chromosome 8.

Mutations of the VHL gene result in the accumulation of hypoxia-inducible factors (HIFs) that stimulate angiogenesis through vascular endothelial growth factor (VEGF) and its receptor (VEGFR). VEGF and VEGFR are important new therapeutic targets.


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