Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

By Ian Tomlinson, N. A. Alam, A. Rowan, E. Barclay, E. Jaeger, D. Kelsell, I. Leigh, P. Gorman, H. Lamlum, S. Rahman and 21 more. Nature Genetics, 2002

1,426 citations recorded by the source corpus.

Subfields: Molecular Biology, Obstetrics and Gynecology, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/c891724e1a3cf2a40f29ce3993e0c74d702d3276

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In Molecular Biology

1. M. V. Vander Heiden
2. Craig B. Thompson
3. D. Y. Gui
4. Alba Luengo
5. Eyal Gottlieb
6. Xuejun Jiang
7. Christopher J. Schofield
8. K. Guan

In Pulmonary and Respiratory Medicine

1. Xuejun Jiang
2. Furong Zeng
3. Yu Meng
4. Yihuang Liu
5. Guangtong Deng
6. Xiang Chen
7. Yuming Sun
8. Jiayuan Le

Citations in the corpus

• Oxygen sensing by HIF hydroxylases (2004, background): “Defective fumarate hydratase has been associated with familial susceptibility to papillary renal carcinoma, leiomyomata of the skin, and uterine fibroid”
• Oncometabolite 2-Hydroxyglutarate Is a Competitive Inhibitor of α-Ketoglutarate-Dependent Dioxygenases (2011, neutral): “Furthermore, succinate, the substrate of SDH that is accumulated in cells with reduced or inactivation of SDH, has been shown to directly inhibit multiple a-KG-dependent enzymes, including histone demethylases (Smith et al., 2007).”
• Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer (2006, background): “In 2002, the FH gene at 1q43 was independently identified as the fourth mitochondrial tumour suppressor gene in families with the hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome (Tomlinson et al., 2002).”
• Ferroptosis in cancer: from molecular mechanisms to therapeutic strategies (2024, background): “157 159 Notably, renal cancer cells with FH mutations display resistance to ferroptosis and maintain their viability and ability to proliferate even when deprived of cystine.”
• The genetic basis of kidney cancer: a metabolic disease (2010, background): “(67) The kidney tumors in affected individuals are most often solitary and unilateral and have a mix of histologic patterns; they can be papillary, tubulopapillary or solid.”
• Targeting Metabolism for Cancer Therapy (2017, background): “Affected families inherit one defective copy of either FH or SDH, and develop an aggressive form of cancer upon loss of heterozygosity (Baysal et al., 2000; Tomlinson et al., 2002).”