Associated Papers
Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.
Kipnis LM et al.
Cancer Prevention Research (philadelphia, Pa.), 2024
FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.
Wilde BR et al.
Cancer Discovery, 2023
A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression.
Anderson WJ et al.
International Journal of Surgical Pathology, 2022
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_BRAVO
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Chan E et al.
The American Journal of Surgical Pathology, 2019
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Rabban JT et al.
The American Journal of Surgical Pathology, 2019
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
Joseph NM et al.
The American Journal of Surgical Pathology, 2015
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.
Chen YB et al.
The American Journal of Surgical Pathology, 2014
Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas.
Kuwada M et al.
Bmc Research Notes, 2014
Structural basis of fumarate hydratase deficiency.
Picaud S et al.
Journal of Inherited Metabolic Disease, 2011
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL et al.
Clinical Genetics, 2011
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
Bayley JP et al.
Bmc Medical Genetics, 2008
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