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

ABSTRACT:

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 available clinical data and technological constraints.

Methods

To overcome this, we initially manually curated the largest set of clinically validated VHL mutations to date, enabling a robust assessment of existing predictive tools on an independent test set. Additionally, we comprehensively characterized the effects of mutations within VHL using in silico biophysical tools d

SUBMITTER: Serghini A 

PROVIDER: S-EPMC10800015 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature