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Article

FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer

31 May 2023

Abstract excerpt

Fumarate accumulation due to loss of fumarate hydratase (FH) drives cellular transformation. Germline FH alterations lead to hereditary leiomyomatosis and renal cell cancer (HLRCC) where patients are predisposed to an aggressive form of kidney cancer. There is an unmet need to classify FH variants by cancer-associated risk. We quantified catalytic efficiencies of 74 variants of uncertain significance. Over half...

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PMID: 37255402
DOI: 10.1158/2159-8290.cd-22-0874

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