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ID

45201

Beschreibung

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

Stichworte

  1. 18.08.22 18.08.22 - Simon Heim
  2. 12.10.22 12.10.22 - Adrian Schulz
Rechteinhaber

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

Hochgeladen am

12. Oktober 2022

DOI

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Lizenz

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
    Beschreibung

    pht002464

    De-identified Patient ID
    Beschreibung

    PATIENTID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2346787 (Anonymous)
    UMLS CUI [1,2]
    C2348585 (Clinical Trial Subject Unique Identifier)
    De-identified Sample ID
    Beschreibung

    SAMPID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2346787 (Anonymous)
    UMLS CUI [1,2]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Body site where sample was collected
    Beschreibung

    BODY_SITE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0449705 (Site of sampling)
    SNOMED
    246317007
    LOINC
    MTHU008875
    Sample Type
    Beschreibung

    SAMPLE_TYPE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2347029 (Biospecimen Type)
    Tumor status
    Beschreibung

    IS_TUMOR

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0475752 (Tumor status)
    SNOMED
    277058005
    Cell or tissue type or subtype of sample
    Beschreibung

    HISTOLOGICAL_TYPE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2713035 (Tissue type)
    LOINC
    LP91024-7
    Primary tumor, metastasis, or transformed cell line
    Beschreibung

    PRIMARY_METASTATIC_TUMOR

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0677930 (Primary Neoplasm)
    UMLS CUI [1,2]
    C0027627 (Neoplasm Metastasis)
    LOINC
    LP35033-7
    UMLS CUI [1,3]
    C0007601 (Cell Line, Transformed)
    Primary tumor location
    Beschreibung

    PRIMARY_TUMOR_LOCATION

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0475447 (Primary tumor site)
    SNOMED
    399687005
    Hepatitis B virus infection status
    Beschreibung

    IS_HBV

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2708503 (Hepatitis B virus status)
    LOINC
    LP94377-6

    Ähnliche Modelle

    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
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    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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