Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome

Abstract Background Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC), caused by heterozygous germline pathogenic variants in the FH, confers an increased risk for cutaneous and uterine leiomyomas and renal cancer. Methods About 13,722 advanced cancer patients, including 560 with rena...

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Main Authors: Kelsey E. Breen, Maria I. Carlo, Yelena Kemel, Anna Maio, Ying‐Bei Chen, Liying Zhang, Ozge Ceyhan‐Birsoy, Diana Mandelker
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2020-08-01
Colecção:Molecular Genetics & Genomic Medicine
Assuntos:
carcinoma
fumarate hydratase
leiomyomatosis
mutation
renal cell
Acesso em linha:https://doi.org/10.1002/mgg3.1293
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