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Whole exome sequencing of brainstem glioma

Case:Nat Genet. 2014 Jul;46(7):726-30.

Research summary


In 2014, Genetron Health’s chief scientific officer, Professor Hai Yan, and Beijing Tiantan Hospital Professor Liwei Zhang published their joint discovery of PPM1D gene mutations as a driver gene in brainstem glioma. This research sequenced 14 brainstem glioma samples and 12 thalamic glioma samples through whole exome sequencing. PPM1D mutations were discovered in brainstem gliomas, in addition to previously known mutations such as H3F3A and TP53, as well as IDH1, PDGFRA, FGFR1 and NF1. Correlation analysis revealed that PPM1D mutations can induce cell growth and dephosphorylate p53 and Chk protein in cells after radiation treatment.




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