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ID

46151

Descrição

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

Palavras-chave

  1. 2022-12-14 2022-12-14 - Simon Heim
  2. 2025-01-29 2025-01-29 - Akane Nishihara
Titular dos direitos

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

Transferido a

29 januari 2025

DOI

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Licença

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
    Descrição

    pht003878

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    Subject ID
    Descrição

    SUBJECT_ID

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Consent group as determined by DAC
    Descrição

    CONSENT

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0021430 (Informed Consent)
    UMLS CUI [1,2]
    C0441833 (Groups)
    SNOMED
    246261001
    Sex
    Descrição

    SEX

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0079399 (Gender)
    SNOMED
    263495000
    LOINC
    LP61312-2

    Similar models

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

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de dados
    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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