ID

45201

Descrição

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

Palavras-chave

  1. 18/08/2022 18/08/2022 - Simon Heim
  2. 12/10/2022 12/10/2022 - Adrian Schulz
Titular dos direitos

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

Transferido a

12 de outubro de 2022

DOI

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Licença

Creative Commons BY 4.0

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dbGaP phs000384 Genentech Whole Genome Sequencing of Four Hepatocellular Carcinoma Patients

The sample attributes data table includes sample analyte type (DNA or RNA), body site where samples were collected, is tumor status, primary tumor location, status of hepatitis B virus infection, and histological type.

pht002464
Descrição

pht002464

De-identified Patient ID
Descrição

PATIENTID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
De-identified Sample ID
Descrição

SAMPID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Descrição

BODY_SITE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0449705
Sample Type
Descrição

SAMPLE_TYPE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2347029
Tumor status
Descrição

IS_TUMOR

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0475752
Cell or tissue type or subtype of sample
Descrição

HISTOLOGICAL_TYPE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2713035
Primary tumor, metastasis, or transformed cell line
Descrição

PRIMARY_METASTATIC_TUMOR

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0677930
UMLS CUI [1,2]
C0027627
UMLS CUI [1,3]
C0007601
Primary tumor location
Descrição

PRIMARY_TUMOR_LOCATION

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0475447
Hepatitis B virus infection status
Descrição

IS_HBV

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2708503

Similar models

The sample attributes data table includes sample analyte type (DNA or RNA), body site where samples were collected, is tumor status, primary tumor location, status of hepatitis B virus infection, and histological type.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht002464
PATIENTID
Item
De-identified Patient ID
string
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
SAMPID
Item
De-identified Sample ID
string
C2346787 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
SAMPLE_TYPE
Item
Sample Type
string
C2347029 (UMLS CUI [1,1])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not a tumor (N)
CL Item
Is Tumor (Y)
HISTOLOGICAL_TYPE
Item
Cell or tissue type or subtype of sample
string
C2713035 (UMLS CUI [1,1])
PRIMARY_METASTATIC_TUMOR
Item
Primary tumor, metastasis, or transformed cell line
string
C0677930 (UMLS CUI [1,1])
C0027627 (UMLS CUI [1,2])
C0007601 (UMLS CUI [1,3])
PRIMARY_TUMOR_LOCATION
Item
Primary tumor location
string
C0475447 (UMLS CUI [1,1])
IS_HBV
Item
Hepatitis B virus infection status
string
C2708503 (UMLS CUI [1,1])

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