ID

45201

Description

Principal Investigator: Zemin Zhang, PhD, Genentech Inc., San Francisco, CA, USA MeSH: Hepatocellular Carcinomas,Hepatitis B https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000384 Hepatitis B virus (HBV) infection is a major risk factor for hepatocellular carcinoma (HCC). In this study we sequenced the whole genome (~80X) and transcriptome of tumor and non-tumor samples from four HCC patients and identified over two hundred HBV integration sites. We found significant clonal expansion of HBV-integrated hepatocytes specifically in the tumor samples. We observed a diverse collection of genomic perturbations near viral integration sites, including gene disruption, viral promoter-driven human transcription, viral-human transcript fusion and DNA copy number alteration. We also sequenced one patient at ultra-high coverage (~240X) to build the most comprehensive HBV-integration landscape yet attempted. Our data suggest that the viral integration significantly expands carcinogenic opportunities in HBV-infected individuals.

Link

dbGaP study = phs000384

Keywords

  1. 8/18/22 8/18/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Zemin Zhang, PhD, Genentech Inc., San Francisco, CA, USA

Uploaded on

October 12, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000384 Genentech Whole Genome Sequencing of Four Hepatocellular Carcinoma Patients

The subject phenotype data table includes demographic information (n=2 variables; age and sex) , status of hepatitis B virus infection, and percentage of tumor content in tumor samples of patients with hepatocellular carcinoma.

pht002463
Description

pht002463

De-identified Subject ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Patient age at diagnosis
Description

age

Data type

text

Measurement units
  • Years
Alias
UMLS CUI [1,1]
C1828181
Years
Gender of participant
Description

sex

Data type

text

Alias
UMLS CUI [1,1]
C0079399
The staus of Hepatitis B virus infection
Description

HBV_status

Data type

string

Alias
UMLS CUI [1,1]
C0458066
Percentage of tumor coent in tumor sample
Description

tumor_content

Data type

text

Measurement units
  • %
Alias
UMLS CUI [1,1]
C0475358
UMLS CUI [1,2]
C5237816
%

Similar models

The subject phenotype data table includes demographic information (n=2 variables; age and sex) , status of hepatitis B virus infection, and percentage of tumor content in tumor samples of patients with hepatocellular carcinoma.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht002463
SUBJID
Item
De-identified Subject ID
string
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
age
Item
Patient age at diagnosis
text
C1828181 (UMLS CUI [1,1])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of participant
CL Item
Female (F)
CL Item
Male (M)
HBV_status
Item
The staus of Hepatitis B virus infection
string
C0458066 (UMLS CUI [1,1])
tumor_content
Item
Percentage of tumor coent in tumor sample
text
C0475358 (UMLS CUI [1,1])
C5237816 (UMLS CUI [1,2])

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