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Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease

26 Oct 2023

Abstract excerpt

BACKGROUND: Mutations within the Von Hippel-Lindau (VHL) tumor suppressor gene are known to cause VHL disease, which is characterized by the formation of cysts and tumors in multiple organs of the body, particularly clear cell renal cell carcinoma (ccRCC). A major challenge in clinical practice is determining tumor risk from a given mutation in the VHL gene. Previous efforts have been hindered by limited...

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PMID: 37883464
DOI: 10.1093/hmg/ddad181

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