Location specific ACVR1, FGFR1 and TP53 mutations in pediatric glioblastomas in conjunction with H3.3 K27M.

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
EGAD00001000791	Exome sequencing of familial and sporadic small cell cancer of ovary cases.	Illumina HiSeq 2000 Illumina HiSeq 2500	16
EGAD00001000792	Whole exome sequencing of paediatric glioblastoma with mutations reported in the manuscript: Mutations in ACVR1, FGFR1 and TP53 associate with tumor location in histone H3 K27M pediatric midline high-grade astrocytoma	Illumina HiSeq 2000 Illumina HiSeq 2500	38

Publications	Citations
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma. Fontebasso AM, Papillon-Cavanagh S, Schwartzentruber J, Nikbakht H, Gerges N, Fiset PO, Bechet D, Faury D, De Jay N, Ramkissoon LA, Corcoran A, Jones DT, Sturm D, Johann P, Tomita T, Goldman S, Nagib M, Bendel A, Goumnerova L, Bowers DC, Leonard JR, Rubin JB, Alden T, Browd S, Geyer JR, Leary S, Jallo G, Cohen K, Gupta N, Prados MD, Carret AS, Ellezam B, Crevier L, Klekner A, Bognar L, Hauser P, Garami M, Myseros J, Dong Z, Siegel PM, Malkin H, Ligon AH, Albrecht S, Pfister SM, Ligon KL, Majewski J, Jabado N, Kieran MW. Nat Genet 46: 2014 462-466	272
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
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	494
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas. Madubata CJ, Roshan-Ghias A, Chu T, Resnick S, Zhao J, Arnes L, Wang J, Rabadan R. NPJ Genom Med 2: 2017 29	8
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	92
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	20