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

Familial cancer - 1 Jan 2017

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

Abstract excerpt

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC) is a rare disease and since the first report, it has been found in just over 200 families approximately, around the world (Smit et al. in Clin Genet 79:49-59, 2009). Patients in Colombia or in Latin America have not been described, as far as we know. HLRCC is inherited in an autosomal dominant manner, and it is caused by heterozygous germline...

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PMID: 27566483
DOI: 10.1007/s10689-016-9922-4

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