EGAGenomicsIllumina HiSeq 2000;https://ega-archive.org/datasets/EGAD0000100070540EGA dataset EGAD00001000705EGADiffuse intrinsic pontine gliomas (DIPGs) are highly infiltrative malignant glial neoplasms of the ventral pons that, due to their location within the brain, are unsuitable for surgical resection and consequently have a universally dismal clinical outcome. The median survival time is 9-12 months, with neither chemotherapeutic nor targeted agents showing substantial survival benefit in clinical trials in children with these tumors. We report the identification of recurrent activating mutations in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, in 21% of DIPG samples. Strikingly, these somatic mutations (encoding p.Arg206His, p.Arg258Gly, p.Gly328Glu, p.Gly328Val, p.Gly328Trp and p.Gly356Asp substitutions) have not been reported previously in cancer but are identical to mutations found in the germ line of individuals with the congenital childhood developmental disorder fibrodysplasia ossificans progressiva (FOP) and have been shown to constitutively activate the BMP-TGF-β signaling pathway. These mutations represent new targets for therapeutic intervention in this otherwise incurable disease.Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.Taylor Kathryn R KR, Mackay Alan A, Truffaux Nathalène N, Butterfield Yaron Y, Morozova Olena O, Philippe Cathy C, Castel David D, Grasso Catherine S CS, Vinci Maria M, Carvalho Diana D, Carcaboso Angel M AM, de Torres Carmen C, Cruz Ofelia O, Mora Jaume J, Entz-Werle Natacha N, Ingram Wendy J WJ, Monje Michelle M, Hargrave Darren D, Bullock Alex N AN, Puget Stéphanie S, Yip Stephen S, Jones Chris C, Grill Jacques Jfalseena-DATASET-INSTITUTE OF CANCER RESEARCH-17-12-2013-15:02:33:112-168 - samplesWhole genome sequencing of 20 tumour and normal pairs of diffuse intrinsic pontine glioma (DIPG)2019-10-31 12:52:10EGAD00001000705960624705252EGAC00001000148EGAS00001000572