Article
Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.
Molecular oncology - 1 Aug 2026
Dembic Maja, Nørremølle Anne, Ousager Lilian Bomme, van Brakel Andersen Lars, Binderup Marie Louise Mølgaard, Thomassen Mads
Abstract excerpt
Von Hippel-Lindau disease (vHL) predisposes to tumor development, mainly clear cell renal carcinoma and hemangioblastoma. The underlying cause is germline variants in the VHL gene, with tumorigenesis thought to require additional somatic 'second-hit' events that most commonly include loss of 3p. However, the precise mechanisms of vHL-related tumor development remain incompletely understood. Genomic investigations...
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