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ID

45765

Description

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

Keywords

  1. 6/16/23 6/16/23 - Chiara Middel
Copyright Holder

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

Uploaded on

June 16, 2023

DOI

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License

Creative Commons BY 4.0

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

    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.

    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.
    pht007499
    Description

    pht007499

    Alias
    UMLS CUI [1,1]
    C3846158
    De-identified subject ID
    Description

    SUBJECT_ID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4684638
    UMLS CUI [1,2]
    C2348585
    Primary cancer site or control status
    Description

    PRIMARY_SITE

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0449695
    UMLS CUI [2,1]
    C0243148
    UMLS CUI [2,2]
    C0449438
    Tumor behavior
    Description

    BEHAVIOR

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0027651
    UMLS CUI [1,2]
    C0004927
    Tumor grade
    Description

    GRADE

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0919553
    Tumor histology
    Description

    HISTOLOGY

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0027651
    UMLS CUI [1,2]
    C0019638
    Age at diagnosis (cases) or interview (controls)
    Description

    REF_AGE

    Data type

    text

    Measurement units
    • Years
    Alias
    UMLS CUI [1,1]
    C1706256
    UMLS CUI [1,2]
    C1828181
    UMLS CUI [2,1]
    C0009932
    UMLS CUI [2,2]
    C0001779
    UMLS CUI [2,3]
    C0011008
    UMLS CUI [2,4]
    C0021822
    Intercontinental ancestry as assigned by LAMP. 90 % was used for European, 80% for African and Asian, respectively. The remaining samples were analyzed as other ethnic group. [European, African, Asian, Other]
    Description

    ANCESTRY

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C4288881
    UMLS CUI [1,2]
    C1516050
    UMLS CUI [1,3]
    C2911685
    UMLS CUI [2,1]
    C0043157
    UMLS CUI [2,2]
    C0078988
    UMLS CUI [2,3]
    C0027567
    UMLS CUI [2,4]
    C0205394
    UMLS CUI [2,5]
    C0015031
    Gender of participant
    Description

    GENDER

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0079399

    Similar models

    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.

    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
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht007499
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    De-identified subject ID
    string
    C4684638 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    PRIMARY_SITE
    Item
    Primary cancer site or control status
    text
    C0449695 (UMLS CUI [1,1])
    C0243148 (UMLS CUI [2,1])
    C0449438 (UMLS CUI [2,2])
    BEHAVIOR
    Item
    Tumor behavior
    text
    C0027651 (UMLS CUI [1,1])
    C0004927 (UMLS CUI [1,2])
    Item
    Tumor grade
    text
    C0919553 (UMLS CUI [1,1])
    Code List
    Tumor grade
    CL Item
    Well differentiated (1)
    CL Item
    Moderately differentiated (2)
    CL Item
    Poorly differentiated (3)
    CL Item
    Undifferentiated (4)
    CL Item
    High grade (3/4-whether it is 3 or 4 is pending) (5)
    CL Item
    Low grade (1/2-whether it is 1 or 2 is pending) (6)
    CL Item
    NA (7)
    CL Item
    DK (8)
    HISTOLOGY
    Item
    Tumor histology
    text
    C0027651 (UMLS CUI [1,1])
    C0019638 (UMLS CUI [1,2])
    Item
    Age at diagnosis (cases) or interview (controls)
    text
    C1706256 (UMLS CUI [1,1])
    C1828181 (UMLS CUI [1,2])
    C0009932 (UMLS CUI [2,1])
    C0001779 (UMLS CUI [2,2])
    C0011008 (UMLS CUI [2,3])
    C0021822 (UMLS CUI [2,4])
    Code List
    Age at diagnosis (cases) or interview (controls)
    CL Item
    DK (888)
    ANCESTRY
    Item
    Intercontinental ancestry as assigned by LAMP. 90 % was used for European, 80% for African and Asian, respectively. The remaining samples were analyzed as other ethnic group. [European, African, Asian, Other]
    text
    C4288881 (UMLS CUI [1,1])
    C1516050 (UMLS CUI [1,2])
    C2911685 (UMLS CUI [1,3])
    C0043157 (UMLS CUI [2,1])
    C0078988 (UMLS CUI [2,2])
    C0027567 (UMLS CUI [2,3])
    C0205394 (UMLS CUI [2,4])
    C0015031 (UMLS CUI [2,5])
    Item
    Gender of participant
    text
    C0079399 (UMLS CUI [1,1])
    Code List
    Gender of participant
    CL Item
    Female (F)
    C0086287 (UMLS CUI [1,1])
    CL Item
    Unknown (UNK)
    CL Item
    Other (Oth)
    CL Item
    Male (M)
    C0086582 (UMLS CUI [1,1])
    CL Item
    Not applicable (NA)
    C1272460 (UMLS CUI [1,1])

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