Associated Papers
Fumarate inhibits PTEN to promote tumorigenesis and therapeutic resistance of type2 papillary renal cell carcinoma.
Ge X et al.
Molecular Cell, 2022
A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.
Yagi Y et al.
Human Genome Variation, 2022
35034951 (PubMed )
Supplement: 41439_2021_180_MOESM1_ESM.pdf
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_ClinVar
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
van Spaendonck-Zwarts KY et al.
Familial Cancer, 2012
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL et al.
Clinical Genetics, 2011
Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene.
Badeloe S et al.
Journal of Dermatological Science, 2008
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