NBDC Research ID: hum0385.v2

 

SUMMARY

Aims: To investigate genetic mutations of Combined hepatocellular-cholangiocarcinoma, Cholangiolocarcinoma, Keratin 19-expressing hepatocellular carcinoma, and SOX9-expressing hepatocellular carcinoma and to clarify their association with clinicopathological features

Methods: We obtained non-tumor and tumor tissues from surgical specimens of cholangiolocarcinoma and combined hepatocellular-cholangiocarcinoma and extracted DNA from tissues, then performed whole-exome sequencing analysis.

Participants/Materials: Cholangiolocarcinoma and combined hepatocellular-cholangiocarcinoma patients

 

Dataset IDType of DataCriteriaRelease Date
JGAS000597 NGS (Exome) Controlled-access (Type I) 2023/12/14
JGAS000599 NGS (Exome) Controlled-access (Type I) 2024/01/09

*Release Note

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

 

MOLECULAR DATA

JGAS000597 / JGAS000599

Participants/Materials

cholangiolocarcinoma (ICD10: C221): 8 cases

    tumor tissue: 8 samples, non-tumor tissue: 8 samples, recurrent tumor tissue: 2 samples

combined hepatocellular-cholangiocarcinoma (ICD10: 227): 13 cases

    tumor tissue: 13 samples, non-tumor tissue: 13 samples, recurrent tumor tissue: 2 samples

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source DNAs extracted from tumor and non-tumor tissues
Cell Lines -
Library Construction (kit name) SureSelect Human All Exon V6
Fragmentation Methods Ultrasonic fragmentation (Covaris LE220)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
Japanese Genotype-phenotype Archive Dataset ID

cholangiolocarcinoma: JGAD000726

combined hepatocellular-cholangiocarcinoma: JGAD000728

Total Data Volume

JGAD000726: 157.1 GB (fastq)

JGAD000728: 169.3 GB (fastq)

Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Takamichi Ishii

Affiliation: Department of Surgery, Graduate School of Medicine, Kyoto University

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific Research (C) Elucidation of Genomic Heterogeneity in Hepatocellular Carcinoma from the Perspective of Cancer Stem Cells 19K09145

 

PUBLICATIONS

TitleDOIDataset ID
1 Integrated analyses of the genetic and clinicopathological features of cholangiolocarcinoma: cholangiolocarcinoma may be characterized by mismatch-repair deficiency. doi:10.1002/path.6257 JGAD000726
2 Comprehensive analyses of the clinicopathological features and genomic mutations of combined hepatocellular-cholangiocarcinoma doi: 10.1111/hepr.13965 JGAD000728

 

USRES (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use