{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina HiSeq 2000;"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001000706"],"sample_count":["12"],"description":["EGA dataset EGAD00001000706"],"repository":["EGA"],"title":["DIPG_ICR_WES"],"pubmed_abstract":["Diffuse 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."],"pubmed_title":["Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma."],"pubmed_authors":["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 J"],"name_synonyms":["Vasp, Research and Development, Priorities, DmelCG15112, ENHANCER OF ATNSI ACTIVITY, primary cancer, Malignant Neoplasm, Data Set, Activity, Malignancy, Research, Laboratory, Neoplasms, NDPP1, Benign Neoplasm, Benign Neoplasms, Research Priorities, l(2)02029, Cancers, enb, Tumor, Malignant, malignant tumor, Research Activities., Malignant Neoplasms, VASP, Activities, Neoplasias, Priority, MT, Benign, malignant neoplasm, MENA, Neoplasm, Malignancies, Development and Research, Research Priority, Research Activity, Enb, ENA, Ena, Laboratory Research, Neoplasia, CG15112, ENA/VASP, Cancer, Tumors"],"pubmed_title_synonyms":["tsri, infiltrative brainstem glioma, fop, ActR-I, DIPG Brain Tumors, alk-2, actri, Acvrlk2, ACVR1A, xALK-2, SKR1, TSRI, DIPG Brain Tumor., acvrlk2, acvr1, Brain Tumor, Diffuse Intrinsic Pontine Glioma, ACVRLK2, ACTRI, DIPG, acvr1a, Acvr, Mutations, skr1, Alk-2, diffuse midline glioma, FOP, Alk8, sax, ALK2, ActRIA, Tsk7L, alk8, D330013D15Rik, alk2"],"description_synonyms":["average, WES, Complete Transcriptome, infiltrative brainstem glioma, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, Complete Exome, DIPG Brain Tumors, Complete Exome Sequencing, Whole Transcriptome Sequencing, Exome, DIPG Brain Tumor., Brain Tumor, Diffuse Intrinsic Pontine Glioma, DIPG, DIPG Brain Tumor, Sequencing, Exome Sequencing, diffuse midline glioma, Whole Exome, L-glutamic acid dipinacoline ester, Whole, Whole Exome Sequencing, Whole Transcriptome, Transcriptome Sequencing, other neoplasm, Transcriptome Sequencings, DiPG"],"pubmed_abstract_synonyms":["Pons, MGC130048, Materials, transforming growth factor beta ligand binding to type I receptor, A4, L-Threonine, acvr1, Progress Reports, Tumor, DPP-C, TGFbeta-60A, Varolii, \"Myositis ossificans progressiva\" EXACT [SNOMEDCT_2005_07_31:205527009], acvr1a, TGFbeta, 2-Amino-3-hydroxypropionic acid, Mutations, Hin-d, DmelCG9885, diseases, FL-SRAG, Summary Report, L-glutamic acid dipinacoline ester, TGFbeta receptor binding, diseases and disorders, synganglion, Kinase, l(2)60A-J, placement, Summary Reports, Threonin, Dm-DPP, signal transduction by protein phosphorylation, gamma sarcoglycan, human disease, Progress Report, DIPG Brain Tumors, M(2)23AB, Gbb-60A, SKR1, C81330, Brain Tumor, suprasegmental levels of nervous system, tgfb-60A, SURGICAL AND MEDICAL PROCEDURES, Acvr, Progress, skr1, activin, TGF-beta receptor binding, Field Reports, 2-amino-3-hydroxypropanoic acid, malignant neoplasm, inhibin, gamma-sarcoglycan, Homo sapiens disease, Malignancies, ATP Phosphotransferases, Ponte, \"progressive ossifying myositis\" EXACT [CSP2005:1982-9828], ATP, Tumors, suprasegmental structures, inborn, SG-gamma, TGF-beta, signal transduction by conformational transition, Tg, CG9885, Procedure, Varolius, signal transduction by trans-phosphorylation, signaling cascade, FOP, Fop, Benign, Alk8, Investigative Report, 3-Hydroxyalanine, ALK2, l(2)22Fa, Diseases, Genetic Materials, sarcoglycan, median, relational spatial quality, alk8, \"progressive myositis ossificans\" EXACT [ICD9CM_2006:728.11], Genetic Material, alk2, l(2)k17036, tsri, shv, Srag, FSH-Releasing, Transphosphorylases, infiltrative brainstem glioma, fop, Gbb, GBB, 60A, 4930553O10Rik, death rate, alk-2, Field, TSRI, transforming growth factor beta receptor anchoring activity, Benign Neoplasms, INSDC_feature:gene, FSH-Releasing Protein, Diffuse Intrinsic Pontine Glioma, ACVRLK2, gamma (35kDa dystrophin-associated glycoprotein), Children, Malignant Neoplasms, Tgfbeta-60A, Alk-2, disease, SRAG, pons cerebri, Report, DMDA, signaling pathway, Material, 35kD dystrophin-associated glycoprotein, RP1-178F15.2, srag, Cistron, L Serine, medical condition., L-Serine, location, Myositis Ossificans Progressiva, the brain, other disease, 2500003M10Rik, ho, SGCG_HUMAN, bis(monoacylglycerol) hydrogen phosphate, Neoplasms, M(2)LS1, Benign Neoplasm, connatal, gcn, Gene, Malignant, DIPG, Pons Varolius, TYPE, Fibrodysplasia Ossificans Progressiva, Intervention or Procedure, DAGA4, DmelCG5562, Investigative, 35DAG, disease or disorder, Progressive Ossifying Myositis, MAM, gamma-SG, SCG3, Phosphotransferase, Pons Varolii, Pontes, myositis ossificans progressiva, C1orf77, Dpp, DPP, ActR-I, Genetic, Malignancy, interventionDescription, Acvrlk2, scattered, Interventional, L Threonine, Transphosphorylase, DIPG Brain Tumor, \"Myositis ossificans progressiva\" EXACT [SNOMEDCT_2005_07_31:240121004], non-neoplastic, blk, Neoplasias, c1orf77, BMP, signalling pathway, Progressive Myositis Ossificans, \"progressive myositis ossificans (disorder)\" EXACT [SNOMEDCT_2005_07_31:82725007], SRAG-5, time of survival, SRAG-3, disorder, signal transduction by cis-phosphorylation, Tsk7L, Investigative Reports, Activin, DiPG, Cancer, Intervention Strategies, pp7704, Malignant Neoplasm, TGF-b, 35 kDa dystrophin-associated glycoprotein, diffuse, disorders, acvrlk2, CG5562, medical condition, ACTRI, Cistrons, encephalon, Phosphotransferases, SGCG, LGMD2C, Tgfb-60, Serin, FSH Releasing Protein, vgr/60A, survival, MT, ActRIA, Research Reports, Protein, Neoplasm, transforming growth factor beta receptor ligand, condition, gbb-60A, signalling cascade, Dm-GBB, Intervention, LBPA, transforming growth factor beta, primary cancer, DMDA1, actri, Kinases, l(2)10638, ACVR1A, xALK-2, Cancers, transforming growth factor beta ligand binding to type II receptor, malignant tumor, diffuse midline glioma, Reports, sax, SCARMD2, SixtyA, Summary, D330013D15Rik, \"Myositis Ossificans Progressiva\" EXACT [NCI2004_11_17:C3040], Neoplasia, Field Report, Intrinsic"],"additional_accession":[]},"is_claimable":false,"name":"ena-DATASET-INSTITUTE OF CANCER RESEARCH-17-12-2013-15:22:20:271-113 - samples","description":"Whole exome sequencing of 6 tumour and normal pairs of diffuse intrinsic pontine glioma (DIPG)","dates":{"updated":"2019-10-31 12:52:10"},"accession":"EGAD00001000706","cross_references":{"TAXONOMY":["9606"],"pubmed":["24705252"],"EGA":["EGAC00001000148","EGAS00001000572"]}}