Article

FH variant pathogenicity promotes purine salvage pathway dependence in kidney cancer

2022-08-15

Abstract excerpt

The tricarboxylic citric acid cycle enzyme fumarate hydratase (FH) is a tumor suppressor. When lost in cells, its substrate fumarate accumulates to mM levels and drives oncogenic signaling and transformation. Germline alterations lead to an autosomal dominant condition known as hereditary leiomyomatosis and renal cell cancer (HLRCC) where patients are predisposed to various benign tumors and an aggressive form of...

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Literature Corpus work: edb1e043-7009-58a1-a036-af6be7aa4d14
DOI: 10.1101/2022.08.15.504023

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