Article

Targeting Aggressive VHL Disease with a Germinal Mutation in the CHEK2 Gene: A Personalized Approach

2025-05-21

Abstract excerpt

<h4>Background: </h4> Von Hippel-Lindau (VHL) is a rare inherited dominant disorder leading to central nervous system hemangioblastomas, clear cell renal carcinoma, pheochromocytoma, and pan-creatic tumors. It affects 1 in 36,000 births, VHL patients are heterozygous for a pathogenic VHL mutation in germline. A second mutation in the other allele is required for tumor development, resulting in loss of pVHL functio...

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Literature Corpus work: 9650730c-8c65-51da-a2aa-7c141c22cace
DOI: 10.20944/preprints202505.1711.v1

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