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Somatic Histone H3 Mutations in Diffuse Intrinsic Pontine Gliomas and Non-Brainstem Paediatric Glioblastomas

To identify somatic mutations in paediatric diffuse intrinsic pontine gliomas (DIPGs), we performed whole genome sequencing of 7 DIPGs and matched germline DNA, and targeted sequencing of an additional 43 DIPGs and 36 non-brainstem paediatric glioblastomas (non-BS-PGs). 78% of DIPGs and 22% of non-BS-PGs contained K27M mutation in H3F3A, encoding histone H3.3, or the related HIST1H3B, encoding histone H3.1. An additional 14% of non-BS-PGs had somatic G34R H3F3A mutations.

Type: Whole Genome Sequencing
Archiver: European Genome-phenome Archive (EGA)

6 Datasets 19 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
EGAD00001000085	Somatic Histone H3 mutations	Illumina HiSeq 2000	14
EGAD00001000806	Whole Genome Sequencing (WGS) for St. Jude High Grade Glioma (HGG) study	Illumina HiSeq 2000	63
EGAD00001000807	Whole Exome Sequencing (WES) for St. Jude High Grade Glioma (HGG) study	Illumina HiSeq 2000	148
EGAD00001001432	PCGP Germline Study Whole Genome Sequencing	Illumina HiSeq 2000	1337
EGAD00001001433	PCGP Germline Study Whole Exome Sequencing	Illumina HiSeq 2000	906
EGAD00001003905	RNA-Seq files accompanying the paper titled "Somatic Histone H3 Mutations in Diffuse Intrinsic Pontine Gliomas and Non-Brainstem Paediatric Glioblastomas".	Illumina HiSeq 2000	66

Publications	Citations
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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	11
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The evolution of relapse of adult T cell acute lymphoblastic leukemia. Sentís I, Gonzalez S, Genescà E, García-Hernández V, Muiños F, Gonzalez C, López-Arribillaga E, Gonzalez J, Fernandez-Ibarrondo L, Mularoni L, Espinosa L, Bellosillo B, Ribera JM, Bigas A, Gonzalez-Perez A, Lopez-Bigas N. Genome Biol 21: 2020 284	16
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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	34
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Therapeutic targeting of differentiation-state dependent metabolic vulnerabilities in diffuse midline glioma. Mbah NE, Myers AL, Sajjakulnukit P, Chung C, Thompson JK, Hong HS, Giza H, Dang D, Nwosu ZC, Shan M, Sweha SR, Maydan DD, Chen B, Zhang L, Magnuson B, Zhu Z, Radyk M, Lavoie B, Yadav VN, Koo I, Patterson AD, Wahl DR, Franchi L, Agnihotri S, Koschmann CJ, Venneti S, Lyssiotis CA. Nat Commun 15: 2024 8983	10
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