Involvement of PBRM1 in VHL disease‑associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway

Abstract excerpt

Von Hippel‑Lindau (VHL) disease is the main cause of inherited clear‑cell renal cell carcinoma (ccRCC) and is caused by germline mutations in the VHL tumor suppressor gene. Bi‑allelic VHL alterations lead to inactivation of pVHL, which plays a major role by downstream activation of the hypoxia inducible factor (HIF) pathway. Somatic VHL mutations occur in 80% of sporadic ccRCC cases and the second most frequently...