Biomarker-driven diagnosis of diffuse gliomas.
Atlanta, United States. In Mol Aspects Med, 21 Jun 2015
Pediatric gliomas differ in their spectrum of disease from those in adults; high grade gliomas occurring in children frequently have mutations in H3F3A, ATRX and DAXX, but not IDH.
Integrated genomic characterization of adrenocortical carcinoma.
Paris, France. In Nat Genet, Jun 2014
We performed exome sequencing and SNP array analysis of 45 ACCs and identified recurrent alterations in known driver genes (CTNNB1, TP53, CDKN2A, RB1 and MEN1) and in genes not previously reported in ACC (ZNRF3, DAXX, TERT and MED12), which we validated in an independent cohort of 77 ACCs.
Molecular genetics of gliomas.
Atlanta, United States. In Cancer J, 2014
Pediatric GBMs have a distinctive molecular pathogenesis, as H3F3A and DAXX mutations are frequent, and their gene expression profile is different than adult GBMs.
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
Montréal, Canada. In Nature, 2012
Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation.