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The prognostic role of intragenic copy number breakpoints and identification of...
Carvalho, Diana; Mackay, Alan; Bjerke, Lynn; Grundy, Richard G.; Lopes, Celeste; Reis, R. M.; Jones, ChrisBACKGROUND: Paediatric high grade glioma (pHGG) is a distinct biological entity to histologically similar tumours arising in older adults, and has differing copy number profiles and driver genetic alterations. As functionally important intragenic copy number aberrations (iCNA) and fusion genes begin to be identified in adult HGG, the same has not yet been done in the childhood setting. We applied an iCNA algori...
Histone H3.3 mutations drive pediatric glioblastoma through upregulation of MYCN
Bjerke,Lynn; Mackay, Alan; Nandhabalan, Meera; Burford, Anna; Jury, Alexa; Popov, Sergey; Bax, Dorine A.; Carvalho, Diana; Taylor, Kathryn R.Children and young adults with glioblastoma (GBM) have a median survival rate of only 12 to 15 months, and these GBMs are clinically and biologically distinct from histologically similar cancers in older adults. They are defined by highly specific mutations in the gene encoding the histone H3.3 variant H3F3A, occurring either at or close to key residues marked by methylation for regulation of transcription-K27 ...
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