Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency

Background. AT/RTs are rare aggressive brain tumours, mainly affecting young children. Most cases present with genetic inactivation of SMARCB1, a core member of the SWI/SNF chromatin-remodeling complex. We have performed whole exome- and mRNA-sequencing on an early onset AT/RT case for detection of...

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Detalles Bibliográficos
Autores principales: Sandgren, Johanna, Holm, Stefan, Marino, Ana Maria, Asmundsson, Jurate, Grillner, Pernilla, Nistér, Monica, Díaz de Ståhl, Teresita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4780067/
https://www.ncbi.nlm.nih.gov/pubmed/26998479
http://dx.doi.org/10.1155/2015/862039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4780067/
https://www.ncbi.nlm.nih.gov/pubmed/26998479
http://dx.doi.org/10.1155/2015/862039

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