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ID

46151

Description

Principal Investigator: Javed Khan, MD, National Institutes of Health, Bethesda, MD, USA MeSH: Rhabdomyosarcoma,Rhabdomyosarcoma, Alveolar,Rhabdomyosarcoma, Embryonal https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000720 Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood accounting for approximately 350 newly diagnosed cases yearly in the United States. With the development of multimodal chemotherapy regimens, relapse-free survival rates have improved to 70-80% in patients with localized disease albeit with significant toxicity. Unfortunately, despite aggressive treatment, patients with metastatic or recurrent disease continue to suffer from high mortality. Further characterization of the genetic events underlying this tumor type is critical for the development of more effective diagnostic, prognostic and therapeutic strategies. In a collaborative effort between the National Cancer Institute, the Children's Oncology Group, and the Broad Institute, we use a combination of whole-genome and whole-exome sequencing to characterize the landscape of somatic alterations in 147 tumor/normal pairs.

Link

dbGaP study=phs000720

Keywords

  1. 12/14/22 12/14/22 - Simon Heim
  2. 1/29/25 1/29/25 - Akane Nishihara
Copyright Holder

Javed Khan, MD, National Institutes of Health, Bethesda, MD, USA

Uploaded on

January 29, 2025

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000720 Genomic sequencing of Pediatric Rhabdomyosarcoma

    Subject ID, sex, and consent group of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.

    pht003878
    Description

    pht003878

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

    SUBJECT_ID

    Data type

    string

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

    CONSENT

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0021430
    UMLS CUI [1,2]
    C0441833
    Sex
    Description

    SEX

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0079399

    Similar models

    Subject ID, sex, and consent group of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht003878
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    Item
    Consent group as determined by DAC
    text
    C0021430 (UMLS CUI [1,1])
    C0441833 (UMLS CUI [1,2])
    Code List
    Consent group as determined by DAC
    CL Item
    General Research Use (PUB, MDS) (GRU-PUB-MDS) (1)
    C0021430 (UMLS CUI [1,1])
    C0242481 (UMLS CUI [1,2])
    CL Item
    Disease-Specific (Cancer, MDS) (DS-CA-MDS) (2)
    Item
    Sex
    text
    C0079399 (UMLS CUI [1,1])
    Code List
    Sex
    CL Item
    Male (1)
    C0086582 (UMLS CUI [1,1])
    CL Item
    Female (2)
    C0086287 (UMLS CUI [1,1])

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