• Mutation; HGNC; HGNC:171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Unspecified (PubMed=29674595).
  
• Mutation; HGNC; HGNC:4764; H3-3A; Simple; p.Lys28Met (c.83A>T) (H3.3K27M); ClinVar=VCV000376435; Zygosity=Unspecified (Patent=US20200384022; PubMed=29674595).
  
• Mutation; HGNC; HGNC:8975; PIK3CA; Simple; p.Glu39Lys (c.115G>A); Zygosity=Unspecified (PubMed=29674595).
  
• Mutation; HGNC; HGNC:8975; PIK3CA; Simple; p.Gly1007Arg (c.3019G>C); Zygosity=Unspecified (PubMed=29674595).
  
• Mutation; HGNC; HGNC:9277; PPM1D; Simple; p.Gln510fs (c.1529delA); Zygosity=Unspecified (PubMed=29674595).
  

PubMed=29674595; DOI=10.1126/science.aao4750; PMCID=PMC5949869
Filbin M.G., Tirosh I., Hovestadt V., Shaw M.L., Escalante L.E., Mathewson N.D., Neftel C., Frank N., Pelton K., Hebert C.M., Haberler C., Yizhak K., Gojo J., Egervari K., Mount C., van Galen P., Bonal D.M., Nguyen Q.-D., Beck A., Sinai C., Czech T., Dorfer C., Goumnerova L., Lavarino C., Carcaboso A.M., Mora J., Mylvaganam R., Luo C.C., Peyrl A., Popovic M., Azizi A.A., Batchelor T.T., Frosch M.P., Martinez-Lage M., Kieran M.W., Bandopadhayay P., Beroukhim R., Fritsch G., Getz G., Rozenblatt-Rosen O., Wucherpfennig K.W., Louis D.N., Monje M., Slavc I., Ligon K.L., Golub T.R., Regev A., Bernstein B.E., Suva M.L.
Developmental and oncogenic programs in H3K27M gliomas dissected by single-cell RNA-seq.
Science 360:331-335(2018)

PubMed=29760046; DOI=10.1158/0008-5472.CAN-17-3691; PMCID=PMC6294442
Pal S., Kozono D., Yang X.-D., Fendler W., Fitts W., Ni J., Alberta J.A., Zhao J., Liu K.X., Bian J., Truffaux N., Weiss W.A., Resnick A.C., Bandopadhayay P., Ligon K.L., DuBois S.G., Mueller S., Chowdhury D., Haas-Kogan D.A.
Dual HDAC and PI3K inhibition abrogates NFkappaB- and FOXM1-mediated DNA damage response to radiosensitize pediatric high-grade gliomas.
Cancer Res. 78:4007-4021(2018)

Patent=US20200384022
Suva M.L., Bernstein B.E., Regev A., Filbin M.G., Tirosh I., Hovestadt V.
Methods and compositions for targeting developmental and oncogenic programs in H3K27M gliomas.
Patent number US20200384022, 10-Dec-2020