0 Avaliações

ID

45765

Descrição

Principal Investigator: Thomas A. Sellers, PhD, MPH, Moffitt Cancer Center, Tampa, FL, USA MeSH: Ovarian Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001133 *(Excerpted/paraphrased from original grant application)*: FOCI seeks to expand our understanding of epithelial ovarian cancer through a coordinated and comprehensive approach. Project 1 will focus on discovery, expansion, and replication. By pooling GWAS, we expect to identify new associations and achieve independent replication, explore whether there are risk variants specific for histologic subtypes, and evaluate structural polymorphisms - copy number variants - as risk factors. Finally, Project 1 will leverage the GWAS data to correlate DNA variants with a new endpoint - survival. Project 2 will focus on biological studies designed to help inform interpretation of findings from Project 1. This will include efforts to identify the functional consequences of variants and improve understanding of biological mechanisms. Project 3 will include epidemiologic studies of gene by gene interaction, gene by environment interaction, and development of risk prediction models. The collective effort builds upon the strengths and history of collaboration inherent in the Ovarian Cancer Association Consortium (OCAC), a multidisciplinary group comprised of epidemiologists, genetic epidemiologists, statistical geneticists, molecular and cell biologists and clinicians that was formed in 2005. *The FOCI Cohort is utilized in the following dbGaP sub-studies.* To view genotypes, other molecular data, and derived variables collected in these sub-studies, please click on the following sub-studies below or in the "Sub-studies" box located on the right hand side of this top-level study page phs001133 FOCI Cohort.- phs001131 Affymetrix Exome Chip - phs001132 GWAS Meta Analysis - phs001142 Mayo Omni Express - phs001150 Mayo 2 5M

Link

dbGaP-study=phs001133

Palavras-chave

  1. 16/06/2023 16/06/2023 - Chiara Middel
Titular dos direitos

Thomas A. Sellers, PhD, MPH, Moffitt Cancer Center, Tampa, FL, USA

Transferido a

16 de junho de 2023

DOI

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Licença

Creative Commons BY 4.0

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    dbGaP phs001133 Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)

    Sample ID, analyte type, body site where sample was obtained, tumor status of sample, and indicator if DNA was whole genome amplified of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.

    1. StudyEvent: SEV1
      1. Subject ID, consent group, and affection status of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      2. Subject ID, sample ID, sample use variable, and study of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      3. Subject ID, age at diagnosis, tumor description including tumor behavior, tumor grade, tumor histology, tumor status of sample, and primary site of tumor of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      4. Sample ID, analyte type, and body site where sample was obtained of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      5. Subject ID, gender, ancestry, age at diagnosis, tumor description including tumor behavior, tumor grade, tumor histology, and primary site of tumor of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      6. Sample ID, analyte type, body site where sample was obtained, tumor status of sample, and indicator if DNA was whole genome amplified of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      7. Subject ID, subject ancestry, age at diagnosis, tumor description including tumor behavior, tumor grade, tumor histology, tumor status of sample, primary site of tumor, and indicator if analyzed in European GWAS by FOCI of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      8. Sample ID, analyte type, body site where sample was obtained, indicator for worse duplicates for sample, and indicator for failed QC criterion of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      9. Subject ID, tumor behavior, tumor grade, tumor histology, primary cancer site or control status, and age at diagnosis (cases) or interview (controls) of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      10. Sample ID, analyte type, body site where sample was obtained, and tumor status of sample of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
    pht007500
    Descrição

    pht007500

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

    SAMPLE_ID

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Body site where sample was collected [Blood, Saliva]
    Descrição

    BODY_SITE

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C0449705 (Site of sampling)
    SNOMED
    246317007
    LOINC
    MTHU008875
    Indicator if DNA was whole genome amplified
    Descrição

    WGA

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C1522602 (Indicator)
    UMLS CUI [1,2]
    C0012854 (DNA)
    SNOMED
    24851008
    LOINC
    LP32416-7
    UMLS CUI [1,3]
    C1524063 (Use of)
    SNOMED
    260676000
    UMLS CUI [1,4]
    C3640076 (Whole Genome Sequencing)
    SNOMED
    461571000124105
    Analyte type [DNA]
    Descrição

    ANALYTE_TYPE

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C4744818 (Analyte Type)
    Tumor status of sample
    Descrição

    IS_TUMOR

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0475752 (Tumor status)
    SNOMED
    277058005

    Similar models

    Sample ID, analyte type, body site where sample was obtained, tumor status of sample, and indicator if DNA was whole genome amplified of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.

    1. StudyEvent: SEV1
      1. Subject ID, consent group, and affection status of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      2. Subject ID, sample ID, sample use variable, and study of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      3. Subject ID, age at diagnosis, tumor description including tumor behavior, tumor grade, tumor histology, tumor status of sample, and primary site of tumor of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      4. Sample ID, analyte type, and body site where sample was obtained of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      5. Subject ID, gender, ancestry, age at diagnosis, tumor description including tumor behavior, tumor grade, tumor histology, and primary site of tumor of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      6. Sample ID, analyte type, body site where sample was obtained, tumor status of sample, and indicator if DNA was whole genome amplified of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      7. Subject ID, subject ancestry, age at diagnosis, tumor description including tumor behavior, tumor grade, tumor histology, tumor status of sample, primary site of tumor, and indicator if analyzed in European GWAS by FOCI of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      8. Sample ID, analyte type, body site where sample was obtained, indicator for worse duplicates for sample, and indicator for failed QC criterion of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      9. Subject ID, tumor behavior, tumor grade, tumor histology, primary cancer site or control status, and age at diagnosis (cases) or interview (controls) of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
      10. Sample ID, analyte type, body site where sample was obtained, and tumor status of sample of participants with or without ovarian cancer and involved in the "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)" project.
    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de dados
    Alias
    Item Group
    pht007500
    C3846158 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    De-identified sample ID
    text
    C4684638 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    BODY_SITE
    Item
    Body site where sample was collected [Blood, Saliva]
    string
    C0449705 (UMLS CUI [1,1])
    WGA
    Item
    Indicator if DNA was whole genome amplified
    string
    C1522602 (UMLS CUI [1,1])
    C0012854 (UMLS CUI [1,2])
    C1524063 (UMLS CUI [1,3])
    C3640076 (UMLS CUI [1,4])
    ANALYTE_TYPE
    Item
    Analyte type [DNA]
    string
    C4744818 (UMLS CUI [1,1])
    Item
    Tumor status of sample
    text
    C0475752 (UMLS CUI [1,1])
    Code List
    Tumor status of sample
    CL Item
    Not a tumor (N)

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