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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Bibliografiset tiedot
Julkaisussa:Biomark Res
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2015
Aiheet:
Case Report
Linkit: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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