Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family-Reference-Cited by-同舟云学术

Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family

Published:2016-08-26 Issue:1 Volume:16 Page:117-122
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Arenas Valencia Carolina,Rodríguez López Martha Lucia,Cardona Barreto Andrea Yimena,Garavito Rodríguez Edgar,Arteaga Díaz Clara Eugenia

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics(clinical),Oncology,Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10689-016-9922-4.pdf

Reference20 articles.

1. Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon MEH, van Spaendonck KY et al (2011) Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet 79:49–59

2. Schmidt LS, Linehan WM (2014) Hereditary leiomyomatosis and renal cell carcinoma. Int J Nephrol Renovasc Dis 7:253–260

3. Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML et al (2003) Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 73:95–106

4. De Velasco G, Muñoz C, Sepúlveda JM, Castellano D (2015) Sequential treatments in hereditary leiomyomatosis and renal cell carcinoma (HLRCC): case report and review of the literature. Can Urol Assoc J 9:3–4

5. Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D 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

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