Whole genome sequencing and whole exome sequencing of DIPG tumors and matched normal tissue

Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment. To understand what drives DIPGs we integrated whole-genome-sequencing with methylation, expression and copy-number profiling.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

2 Datasets 11 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001000814	Whole genome alignments of DIPG patients		40
EGAD00001003305	Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment. To understand what drives DIPGs we integrated whole-genome-sequencing with methylation, expression and copy-number profiling.	AB SOLiD System Illumina HiSeq 2500	23

Publications	Citations
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations. Buczkowicz P, Hoeman C, Rakopoulos P, Pajovic S, Letourneau L, Dzamba M, Morrison A, Lewis P, Bouffet E, Bartels U, Zuccaro J, Agnihotri S, Ryall S, Barszczyk M, Chornenkyy Y, Bourgey M, Bourque G, Montpetit A, Cordero F, Castelo-Branco P, Mangerel J, Tabori U, Ho KC, Huang A, Taylor KR, Mackay A, Bendel AE, Nazarian J, Fangusaro JR, Karajannis MA, Zagzag D, Foreman NK, Donson A, Hegert JV, Smith A, Chan J, Lafay-Cousin L, Dunn S, Hukin J, Dunham C, Scheinemann K, Michaud J, Zelcer S, Ramsay D, Cain J, Brennan C, Souweidane MM, Jones C, Allis CD, Brudno M, Becher O, Hawkins C. Nat Genet 46: 2014 451-456	377
ATRX mutations and glioblastoma: Impaired DNA damage repair, alternative lengthening of telomeres, and genetic instability. Koschmann C, Lowenstein PR, Castro MG. Mol Cell Oncol 3: 2016 e1167158	32
Characterizing and targeting PDGFRA alterations in pediatric high-grade glioma. Koschmann C, Zamler D, MacKay A, Robinson D, Wu YM, Doherty R, Marini B, Tran D, Garton H, Muraszko K, Robertson P, Leonard M, Zhao L, Bixby D, Peterson L, Camelo-Piragua S, Jones C, Mody R, Lowenstein PR, Castro MG. Oncotarget 7: 2016 65696-65706	42
Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma. Mackay A, Burford A, Carvalho D, Izquierdo E, Fazal-Salom J, Taylor KR, Bjerke L, Clarke M, Vinci M, Nandhabalan M, Temelso S, Popov S, Molinari V, Raman P, Waanders AJ, Han HJ, Gupta S, Marshall L, Zacharoulis S, Vaidya S, Mandeville HC, Bridges LR, Martin AJ, Al-Sarraj S, Chandler C, Ng HK, Li X, Mu K, Trabelsi S, Brahim DH, Kisljakov AN, Konovalov DM, Moore AS, Carcaboso AM, Sunol M, de Torres C, Cruz O, Mora J, Shats LI, Stavale JN, Bidinotto LT, Reis RM, Entz-Werle N, Farrell M, Cryan J, Crimmins D, Caird J, Pears J, Monje M, Debily MA, Castel D, Grill J, Hawkins C, Nikbakht H, Jabado N, Baker SJ, Pfister SM, Jones DTW, Fouladi M, von Bueren AO, Baudis M, Resnick A, Jones C. Cancer Cell 32: 2017 520-537.e5	541
Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells. Vinci M, Burford A, Molinari V, Kessler K, Popov S, Clarke M, Taylor KR, Pemberton HN, Lord CJ, Gutteridge A, Forshew T, Carvalho D, Marshall LV, Qin EY, Ingram WJ, Moore AS, Ng HK, Trabelsi S, H'mida-Ben Brahim D, Entz-Werle N, Zacharoulis S, Vaidya S, Mandeville HC, Bridges LR, Martin AJ, Al-Sarraj S, Chandler C, Sunol M, Mora J, de Torres C, Cruz O, Carcaboso AM, Monje M, Mackay A, Jones C. Nat Med 24: 2018 1204-1215	97
ATRX loss in glioma results in dysregulation of cell-cycle phase transition and ATM inhibitor radio-sensitization. Qin T, Mullan B, Ravindran R, Messinger D, Siada R, Cummings JR, Harris M, Muruganand A, Pyaram K, Miklja Z, Reiber M, Garcia T, Tran D, Danussi C, Brosnan-Cashman J, Pratt D, Zhao X, Rehemtulla A, Sartor MA, Venneti S, Meeker AK, Huse JT, Morgan MA, Lowenstein PR, Castro MG, Yadav VN, Koschmann C. Cell Rep 38: 2022 110216	26
Splicing is an alternate oncogenic pathway activation mechanism in glioma. Siddaway R, Milos S, Vadivel AKA, Dobson THW, Swaminathan J, Ryall S, Pajovic S, Patel PG, Nazarian J, Becher O, Brudno M, Ramani A, Gopalakrishnan V, Hawkins C. Nat Commun 13: 2022 588	19
Therapeutic targeting of prenatal pontine ID1 signaling in diffuse midline glioma. Messinger D, Harris MK, Cummings JR, Thomas C, Yang T, Sweha SR, Woo R, Siddaway R, Burkert M, Stallard S, Qin T, Mullan B, Siada R, Ravindran R, Niculcea M, Dowling AR, Bradin J, Ginn KF, Gener MAH, Dorris K, Vitanza NA, Schmidt SV, Spitzer J, Li J, Filbin MG, Cao X, Castro MG, Lowenstein PR, Mody R, Chinnaiyan A, Desprez PY, McAllister S, Dun MD, Hawkins C, Waszak SM, Venneti S, Koschmann C, Yadav VN. Neuro Oncol 25: 2023 54-67	5
Structural variants shape driver combinations and outcomes in pediatric high-grade glioma. Dubois FPB, Shapira O, Greenwald NF, Zack T, Wala J, Tsai JW, Crane A, Baguette A, Hadjadj D, Harutyunyan AS, Kumar KH, Blattner-Johnson M, Vogelzang J, Sousa C, Kang KS, Sinai C, Wang DK, Khadka P, Lewis K, Nguyen L, Malkin H, Ho P, O'Rourke R, Zhang S, Gold R, Deng D, Serrano J, Snuderl M, Jones C, Wright KD, Chi SN, Grill J, Kleinman CL, Goumnerova LC, Jabado N, Jones DTW, Kieran MW, Ligon KL, Beroukhim R, Bandopadhayay P. Nat Cancer 3: 2022 994-1011	18
Aberrant DNA repair reveals a vulnerability in histone H3.3-mutant brain tumors. Giacomini G, Piquet S, Chevallier O, Dabin J, Bai SK, Kim B, Siddaway R, Raught B, Coyaud E, Shan CM, Reid RJD, Toda T, Rothstein R, Barra V, Wilhelm T, Hamadat S, Bertin C, Crane A, Dubois F, Forne I, Imhof A, Bandopadhayay P, Beroukhim R, Naim V, Jia S, Hawkins C, Rondinelli B, Polo SE. Nucleic Acids Res 52: 2024 2372-2388	0
Immuno-oncologic profiling of pediatric brain tumors reveals major clinical significance of the tumor immune microenvironment. Levine AB, Nobre L, Das A, Milos S, Bianchi V, Johnson M, Fernandez NR, Stengs L, Ryall S, Ku M, Rana M, Laxer B, Sheth J, Sbergio SG, Fedoráková I, Ramaswamy V, Bennett J, Siddaway R, Tabori U, Hawkins C. Nat Commun 15: 2024 5790	0