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Hospital for Sick Children

ABSTRACT: Organisation EGAO00000000214

PROVIDER: EGAO00000000214 | EGA |

REPOSITORIES: EGA

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Buczkowicz Pawel P   Hoeman Christine C   Rakopoulos Patricia P   Pajovic Sanja S   Letourneau Louis L   Dzamba Misko M   Morrison Andrew A   Lewis Peter P   Bouffet Eric E   Bartels Ute U   Zuccaro Jennifer J   Agnihotri Sameer S   Ryall Scott S   Barszczyk Mark M   Chornenkyy Yevgen Y   Bourgey Mathieu M   Bourque Guillaume G   Montpetit Alexandre A   Cordero Francisco F   Castelo-Branco Pedro P   Mangerel Joshua J   Tabori Uri U   Ho King Ching KC   Huang Annie A   Taylor Kathryn R KR   Mackay Alan A   Bendel Anne E AE   Nazarian Javad J   Fangusaro Jason R JR   Karajannis Matthias A MA   Zagzag David D   Foreman Nicholas K NK   Donson Andrew A   Hegert Julia V JV   Smith Amy A   Chan Jennifer J   Lafay-Cousin Lucy L   Dunn Sandra S   Hukin Juliette J   Dunham Chris C   Scheinemann Katrin K   Michaud Jean J   Zelcer Shayna S   Ramsay David D   Cain Jason J   Brennan Cameron C   Souweidane Mark M MM   Jones Chris C   Allis C David CD   Brudno Michael M   Becher Oren O   Hawkins Cynthia C  

Nature genetics 20140406 5

Diffuse intrinsic pontine glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children, with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate location of these tumors and to the selection of therapies on the basis of assumptions that DIPGs are molecularly similar to adult disease. Recent studies have unraveled the unique genetic makeup of this brain cancer, with nearly 80% found to harbor a p.Lys27Met histone H3.3 or  ...[more]

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