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Von Hippel-Lindau Tumor Suppressor Protein

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

Human molecular genetics
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 (c...

Predicting tumor mutation burden and VHL mutation from renal cancer pathology slides with self-supervised deep learning.

Cancer medicine
BACKGROUND: Tumor mutation burden (TMB) and VHL mutation play a crucial role in the management of patients with clear cell renal cell carcinoma (ccRCC), such as guiding adjuvant chemotherapy and improving clinical outcomes. However, the time-consumin...