Article
Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis.
Human genomics - 21 Jul 2025
Wang Han, Rehim Shamsnur, Wang Hongjing
Abstract excerpt
BACKGROUND: Fumarate hydratase (FH) is a key mitochondrial enzyme in the tricarboxylic acid (TCA) cycle, catalyzing the reversible hydration of fumarate to malate, thereby facilitating aerobic ATP production and maintaining metabolic homeostasis. Germline pathogenic or likely pathogenic variants in the FH gene are strongly linked to hereditary leiomyomatosis and renal cell carcinoma (HLRCC), a rare hereditary...
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