NBDC Research ID: hum0006.v5

 

SUMMARY

Aims: The identification of genomic/genetic alterations in brain tumors (gliomas) and analysis of their clinicopathological significance.

Methods: Exome sequencing, RNA sequencing and Methylation array were performed. Matched normal DNA was also used for Exome sequencing.

      Targeted DNA sequencing for vascular malformation samples was conducted to investigate somatic mutations.

Participants/Materials:

 Surgical specimen obtained from 6 patients with astrocytoma (primary and matched recurrent samples) and paired normal peripheral blood cells (total: 23 samples).

 Surgical specimen obtained from 16 patients with oligodendroglioma (12 primary and matched recurrent samples, 8 samples obtained from 4 patients by multi-sampling)

 Surgical specimen obtained from patients with gliomas (17 patients with diffuse cerebellar glioma, 8 patients with cerebral glioblastoma and 14 patients with thalamic glioma)

 Surgical specimen obtained from 94 patients with gliomas, including primary and matched recurrent samples (total 114 samples) and paired normal blood cells

 Twelve cerebral cavernous malformations, 1 vertebral hemangioma, 3 orbital cavernous malformations, and respective paired peripheral blood samples

 

Dataset IDType of DataCriteriaRelease Date
JGAS000004

astrocytoma

NGS (Exome)

Controlled-access (Type I) 2014/01/31
JGAS000004 data addition

oligodendroglioma

NGS (Exome, RNA-seq), Methylation array

Controlled-access (Type I) 2017/06/05
JGAS000106

gliomas (diffuse cerebellar glioma, cerebral glioblastoma, thalamic glioma)

NGS (Exome, RNA-seq), Methylation array

Controlled-access (Type I) 2017/09/01
JGAS000146

gliomas

NGS (Exome, RNA-seq), Methylation array

Controlled-access (Type I) 2019/02/13
JGAS000325 NGS (Target Capture) Controlled-access (Type I) 2022/08/08

*Release Note

*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more

 

MOLECULAR DATA

Exome

Participants/Materials

astrocytoma (ICD10: C71): 6 cases (23 samples)

oligodendroglioma (ICD10: C71): 16 cases (48 samples)

diffuse cerebellar glioma (ICD10: C71): 17 cases (34 samples)

glioma (ICD10: C71): 12 cases (25 tumor samples, 12 non-tumor samples)

                                   11 pairs of primary-recurrent gliomas and 1 primary glioma

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2000]
Library Source DNAs extracted from surgical specimen of brain tumors (primary and matched recurrent samples) and paired normal peripheral blood cells.
Cell Lines -
Library Construction (kit name) Agilent SureSelect Human All Exon v.4
Fragmentation Methods Ultrasonic fragmentation (Covaris SS)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp
Japanese Genotype-phenotype Archive Dataset ID

JGAD000004 (astrocytoma)

JGAD000106 (oligodendroglioma)

JGAD000112 (diffuse cerebellar glioma)

JGAD000215 (primary grade II/III gliomas and their recurrent tumors; 36 samples, matched normal blood; 16 samples)

JGAD000218 (primary grade IV gliomas and their recurrent tumors; 16 samples, matched normal blood; 8 samples)

Total Data Volume

JGAD000004: 375.31 GB (fastq, bam [reference: hg19])

JGAD000106: 885.30 GB (fastq, bam [reference: hg19])

JGAD000112: 506.99 GB (fastq, bam [reference: hg19])

JGAD000215: 1.32 TB (fastq, bam [reference: hg19])

JGAD000218: 552.72 GB (fastq, bam [reference: hg19])

Comments (Policies) NBDC policy

 

RNA-seq

Participants/Materials

oligodendroglioma (ICD10: C71): 16 cases (27 samples)

diffuse cerebellar glioma (ICD10: C71): 14 cases (14 samples)

cerebral glioblastoma (ICD10: C71): 8 cases (8 samples)

glioma (ICD10: C71): 24 cases (31 samples)

       8 pairs of primary-recurrent gliomas, 8 primary gliomas, and 7 recurrent gliomas

Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2000]
Library Source RNAs extracted from surgical specimen of brain tumors (primary and matched recurrent samples) and paired normal peripheral blood cells.
Cell Lines -
Library Construction (kit name) TruSeq Stranded Total RNA Library Prep Kit
Fragmentation Methods Alkalization
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp
Japanese Genotype-phenotype Archive Dataset ID

JGAD000107

JGAD000113 (diffuse cerebellar glioma, cerebral glioblastoma)

JGAD000216 (gliomas including primary grade II/III gliomas and their recurrent tumors; 31 samples)

JGAD000219 (recurrent tumors of primary grade IV gliomas; 8 samples)

Total Data Volume

JGAD000107: 239.26 GB (bam, fastq)

JGAD000113: 363.23 GB (bam, fastq)

JGAD000216: 302.43 GB (bam, fastq)

JGAD000219: 96.94 GB (bam, fastq)

Comments (Policies) NBDC policy

 

Methylation array

Participants/Materials

oligodendroglioma (ICD10: C71): 16 cases (30 samples)

diffuse cerebellar glioma (ICD10: C71): 17 cases (17 samples)

thalamic glioma (ICD10: C71): 14 cases (14 samples)

glioma (ICD10: C71): 93 cases (113 samples)

20 pairs of primary-recurrent gliomas, 69 primary gliomas, and 4 recurrent gliomas

Targets Methylation array
Target Loci for Capture Methods -
Platform Illumina [HumanMethylation 450 BeadChip]
Library Source DNAs extracted from surgical specimen of brain tumors (primary and matched recurrent samples) and paired normal peripheral blood cells.
Cell Lines -
Library Construction (kit name) Illumina HumanMethylation450 BeadChip kit
Algorithms for Calculating Methylation-rate (software) Genome Studio v2010.3
Filtering Methods HumanMethylation450_15017482_v1.1 (bpm)
Probe Number (after QC) 485577 methylation sites
Japanese Genotype-phenotype Archive Dataset ID

JGAD000108

JGAD000114 (diffuse cerebellar glioma, thalamic glioma)

JGAD000217 (gliomas including primary grade II/III tumors and their recurrent tumors; 113 samples)

Total Data Volume

JGAD000108: 139.75 MB (txt)

JGAD000114: 154.82 MB (txt)

JGAD000217: 398.82 MB (txt)

Comments (Policies) NBDC policy

 

JGAS000325

Participants/Materials

cerebral cavernous malformation (ICD10:D180): 12 cases

vertebral hemangioma (ICD10:D180): 1 cases

orbital cavernous malformation (ICD10:D180): 3 cases

  vascular malformation samples, respective paired peripheral blood samples (total 32 samples)

Targets Target Capture
Target Loci for Capture Methods 6110 target genes
Platform Illumina [HiSeq 2500]
Library Source DNAs extracted from vascular malformation samples and respective paired peripheral blood samples
Cell Lines -
Library Construction (kit name) Agilent SureSelect XT Focused Exome target enrichment kit
Fragmentation Methods Ultrasonic fragmentation (Covaris E220)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000436
Total Data Volume 193.9 GB (fastq)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Nobuhito Saito

Affiliation: Department of Neurosurgery, The University of Tokyo

Project / Group Name: Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT)

URL: http://p-direct.jfcr.or.jp/english/

Funds / Grants (Research Project Number):

NameTitleProject Number
Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT), Japan Agency for Medical Research and Development (AMED) Development of novel therapeutic strategy and biomarker for the treatment of malignant brain tumors -
Project for Cancer Research and Therapeutic Evolution (P-CREATE), Japan Agency for Medical Research and Development (AMED) Analysis of the mechanisms for development of tumor heterogeneity related to treatment resistance of gliomas and discovery of therapeutic strategies -
KAKENHI Grant-in-Aid for Scientific Research (B) Analysis of novel vascular malformation causative gene 21H03041

 

PUBLICATIONS

TitleDOIDataset ID
1 Mutational Analysis Reveals the Origin and Therapy-Driven Evolution of Recurrent Glioma doi:10.1126/science.1239947 JGAD000004
2 Genetic and epigenetic stability of oligodendrogliomas at recurrence doi: 10.1186/s40478-017-0422-z JGAD000106-JGAD000108
3 Distinct molecular profile of diffuse cerebellar gliomas doi: 10.1007/s00401-017-1771-1 JGAD000112-JGAD000113
4 DNA demethylation is associated with malignant progression of lower-grade gliomas doi: 10.1038/s41598-019-38510-0 JGAD000215-JGAD000219
5 Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations doi: 10.1007/s10456-022-09846-5 JGAD000436

 

USERS (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use
Michiaki Hamada Faculty of Science and Engineering, Waseda University Japan Construction of RNA-targeted Drug Discovery Database JGAD000107
JGAD000113
JGAD000216
JGAD000219
2022/12/26-2025/03/31
Frank Attenello Keck School of Medicine of USC United States of America Examining the role of a novel long noncoding RNA, linc02454, in resistance of glioblastoma to temozolomide JGAD000215-JGAD000219 2023/03/19-2026/01/31