Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BR...

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Detalhes bibliográficos
Publicado no:Biomark Res
Main Authors: Miele, Evelina, Mastronuzzi, Angela, Po, Agnese, Carai, Andrea, Alfano, Vincenzo, Serra, Annalisa, Colafati, Giovanna Stefania, Strocchio, Luisa, Antonelli, Manila, Buttarelli, Francesca Romana, Zani, Massimo, Ferraro, Sergio, Buffone, Amelia, Vacca, Alessandra, Screpanti, Isabella, Giangaspero, Felice, Giannini, Giuseppe, Locatelli, Franco, Ferretti, Elisabetta
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4462002/
https://ncbi.nlm.nih.gov/pubmed/26064523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40364-015-0038-z
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