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Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

BACKGROUND: Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline TP53 mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, and other early-onset tumors. Due to the high frequency of breast cancer in LF...

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Detalles Bibliográficos
Autores principales: Silva, Amanda Gonçalves, Ewald, Ingrid Petroni, Sapienza, Marina, Pinheiro, Manuela, Peixoto, Ana, de Nóbrega, Amanda França, Carraro, Dirce M, Teixeira, Manuel R, Ashton-Prolla, Patricia, Achatz, Maria Isabel W, Rosenberg, Carla, Krepischi, Ana C V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502571/
https://www.ncbi.nlm.nih.gov/pubmed/22691290
http://dx.doi.org/10.1186/1471-2407-12-237