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ID

45386

Beschreibung

Principal Investigator: Arul M. Chinnaiyan, MD, PhD, University of Michigan, MI, USA MeSH: Neoplasms,Cholangiocarcinoma,Breast Neoplasms,Prostatic Neoplasms,Urinary Bladder Neoplasms,Mouth Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000602 In this study, patients with advanced cancer across all histologies were enrolled in our IRB approved clinical sequencing program, called MI-ONCOSEQ, to go through an integrative sequencing which includes whole exome sequencing of the tumor and matched normal, and transcriptome sequencing. Four index cases were identified which harbor gene rearrangements of FGFR2 including two cholangiocarcinoma cases, a metastatic breast cancer case, and a metastatic prostate cancer case. After extending our assessment of FGFR rearrangements across multiple tumor cohorts, including TCGA, we identified FGFR gene fusions with intact kinase domains of FGFR1, FGFR2, or FGFR3 in cholangiocarcinoma, breast cancer, prostate cancer, lung squamous cell cancer, bladder cancer, thyroid cancer, oral cancer, glioblastoma, and head and neck squamous cell cancer. All FGFR fusion partners tested exhibit oligomerization capability, suggesting a shared mode of kinase activation. Overexpression of FGFR fusion proteins in vitro induced cell proliferation, and bladder cancer cell lines that harbors FGFR3 fusion proteins exhibited enhanced susceptibility to pharmacologic inhibition in vitro and in vivo. Due to the combinatorial possibilities of FGFR family fusion to a variety of oligomerization partners, clinical sequencing efforts which incorporate transcriptome analysis for gene fusions are poised to identify rare, targetable FGFR fusions across diverse cancer types.

Link

dbGaP study = phs000602

Stichworte

  1. 11.11.22 11.11.22 - Simon Heim
Rechteinhaber

Arul M. Chinnaiyan, MD, PhD, University of Michigan, MI, USA

Hochgeladen am

11. November 2022

DOI

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Lizenz

Creative Commons BY 4.0

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    dbGaP phs000602 Identification of Targetable FGFR Gene Fusions in Diverse Cancers

    Subject ID, consent group, subject source, subject source ID, affection status of patients with advanced cancer of different localizations and involved in the "Identification of Targetable FGFR Gene Fusions in Diverse Cancers" project.

    pht003220
    Beschreibung

    pht003220

    Alias
    UMLS CUI [1,1]
    C3846158
    Subject ID
    Beschreibung

    SUBJID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2348585
    Consent group as determined by DAC
    Beschreibung

    CONSENT

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0021430
    UMLS CUI [1,2]
    C1257890
    Source repository where subjects originate
    Beschreibung

    SUBJ_SOURCE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C3847505
    UMLS CUI [1,2]
    C0449416
    UMLS CUI [1,3]
    C0681850
    Subject ID used in the Source Repository
    Beschreibung

    SOURCE_SUBJID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2348585
    UMLS CUI [1,2]
    C3847505
    UMLS CUI [1,3]
    C0449416
    Case control status of the subject
    Beschreibung

    AFFECTION_STATUS

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C3274646

    Ähnliche Modelle

    Subject ID, consent group, subject source, subject source ID, affection status of patients with advanced cancer of different localizations and involved in the "Identification of Targetable FGFR Gene Fusions in Diverse Cancers" project.

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht003220
    C3846158 (UMLS CUI [1,1])
    SUBJID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    Item
    Consent group as determined by DAC
    text
    C0021430 (UMLS CUI [1,1])
    C1257890 (UMLS CUI [1,2])
    Code List
    Consent group as determined by DAC
    CL Item
    Disease-Specific (Cancer, MDS) (DS-CA-MDS) (1)
    SUBJ_SOURCE
    Item
    Source repository where subjects originate
    string
    C3847505 (UMLS CUI [1,1])
    C0449416 (UMLS CUI [1,2])
    C0681850 (UMLS CUI [1,3])
    SOURCE_SUBJID
    Item
    Subject ID used in the Source Repository
    string
    C2348585 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    C0449416 (UMLS CUI [1,3])
    Item
    Case control status of the subject
    text
    C3274646 (UMLS CUI [1,1])
    Code List
    Case control status of the subject
    CL Item
    Control (1)
    C3274648 (UMLS CUI [1,1])
    CL Item
    Case (2)
    C3274647 (UMLS CUI [1,1])
    CL Item
    Other (3)

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