A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Genetics (clinical),Oncology,Genetics
Link
http://link.springer.com/article/10.1007/s10689-018-0076-4/fulltext.html
Reference22 articles.
1. Tomlinson IP, Alam NA, Rowan AJ et al (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30:406–410
2. Gardie B, Remenieras A, Kattygnarath D et al (2011) Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet 48:226–234
3. Sandhu IV, Maksim NJ, Amouzougan EA et al (2015) Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1). Biochem Soc Trans 43:650–656
4. Bardella C, El-Bahrawy M, Frizzell N et al (2011) Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. J Pathol 225:4–11
5. Buelow B, Cohen J, Nagymanyoki Z et al (2016) Immunohistochemistry for 2-Succinocysteine (2SC) and fumarate hydratase (FH) in cutaneous leiomyomas may aid in identification of patients With HLRCC (hereditary leiomyomatosis and renal cell carcinoma syndrome. Am J Surg Pathol 40:982–988
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1. Increased Occurrence of Cutaneous Leiomyomas and Dermatofibromas in Patients with Uterine Leiomyomas without Fumarate Hydratase Gene Mutations;Dermatopathology;2023-08-04
2. Characterization of protein S-(2-succino)-cysteine (2SC) succination as a biomarker for fumarate hydratase–deficient renal cell carcinoma;Human Pathology;2023-04
3. Fumarate Hydratase and S-(2-Succinyl)-Cysteine Immunohistochemistry Shows Evidence of Fumarate Hydratase Deficiency in 2% of Uterine Leiomyosarcomas: A Cohort Study of 348 Tumors;International Journal of Gynecological Pathology;2022-12-05
4. Fumarate Hydratase is a Novel Gene for Familial Non-Medullary Thyroid Cancer;The Journal of Clinical Endocrinology & Metabolism;2022-06-25
5. Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series;Clinical Case Reports;2022-03
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