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

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 renal cell...

Descripción completa

Detalles Bibliográficos
Autores principales: Breen, Kelsey E., Carlo, Maria I., Kemel, Yelena, Maio, Anna, Chen, Ying‐Bei, Zhang, Liying, Ceyhan‐Birsoy, Ozge, Mandelker, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434728/
https://www.ncbi.nlm.nih.gov/pubmed/32463173
http://dx.doi.org/10.1002/mgg3.1293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434728/
https://www.ncbi.nlm.nih.gov/pubmed/32463173
http://dx.doi.org/10.1002/mgg3.1293

Ejemplares similares