0 Beoordelingen

ID

45975

Beschrijving

Principal Investigator: Immaculata De Vivo, PhD, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA and Harvard TH Chan School of Public Health, Boston, MA, USA MeSH: Carcinoma, Endometrioid,Endometrial Neoplasms,Uterine Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000893 Endometrial cancer, the most common gynecological malignancy in the United States, has both an environmental and genetic component. To this end, we conducted a genome-wide association study to identify genes involved in endometrial cancer using studies from the NCI-supported Epidemiology of Endometrial Cancer Consortium (E2C2). For the discovery stage we included samples from 6 cohort and 7 case control studies through 2007. The total number of cases genotyped were 2,307, white women of European descent, and 2,307 matched controls using the Illumina HumanOmniExpress platform. We conducted the replication using the Infinium HumanExome BeadChip, which successfully genotyped 177,139 variants in 1055 cases and 1778 controls from four ethnically diverse studies that are part of the Epidemiology of Endometrial Cancer Consortium (E2C2). The overall goal is to determine whether certain genotypes are predictive of future endometrial cancer risk, and whether the genotypes interact with established endometrial risk factors.

Link

dbGaP study=phs000893

Trefwoorden

  1. 02-04-24 02-04-24 - Madita Rudolph
Houder van rechten

Immaculata De Vivo, PhD, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA and Harvard TH Chan School of Public Health, Boston, MA, USA

Geüploaded op

2 april 2024

DOI

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Licentie

Creative Commons BY 4.0

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    dbGaP phs000893 Genome-Wide Association Study of Endometrial Cancer in E2C2

    Eligibility Criteria

    Inclusion and exclusion criteria
    Beschrijving

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693 (Inclusion)
    UMLS CUI [1,2]
    C0680251 (Exclusion Criteria)
    Cases included women who were newly diagnosed with endometrial cancer. Controls from nested case-control studies were cancer free at the time of case diagnosis. Controls from case-control studies must have had an intact uterus (i.e. no hysterectomies). All subjects must have provided biospecimens. Subject IDs whose genotyping did not pass quality control were excluded.
    Beschrijving

    Elig.phs000893.v1.p1.1

    Datatype

    boolean

    Alias
    UMLS CUI [1,1]
    C1516637 (Clinical Trial Eligibility Criteria)
    UMLS CUI [1,2]
    C1706256 (Clinical Study Case)
    UMLS CUI [1,3]
    C1518321 (Newly Diagnosed)
    UMLS CUI [1,4]
    C0476089 (Endometrial Carcinoma)
    SNOMED
    254878006
    UMLS CUI [1,5]
    C0470187 (Availability of)
    SNOMED
    103328004
    UMLS CUI [1,6]
    C2347026 (Biospecimen)
    UMLS CUI [1,7]
    C2348563 (Study Protocol)
    UMLS CUI [2,1]
    C1516637 (Clinical Trial Eligibility Criteria)
    UMLS CUI [2,2]
    C0009932 (Control Groups)
    UMLS CUI [2,3]
    C0006826 (Malignant Neoplasms)
    SNOMED
    363346000
    LOINC
    LP100805-3
    UMLS CUI [2,4]
    C0332197 (Absent)
    SNOMED
    2667000
    LOINC
    LA9634-2
    UMLS CUI [2,5]
    C0042149 (Uterus)
    SNOMED
    35039007
    LOINC
    LP7699-4
    UMLS CUI [2,6]
    C0205266 (Intact)
    SNOMED
    11163003
    LOINC
    LA18951-6
    UMLS CUI [2,7]
    C0470187 (Availability of)
    SNOMED
    103328004
    UMLS CUI [2,8]
    C2347026 (Biospecimen)
    UMLS CUI [3,1]
    C0680251 (Exclusion Criteria)
    UMLS CUI [3,2]
    C1285573 (Genotype determination)
    SNOMED
    726528006
    LOINC
    LP28723-2
    UMLS CUI [3,3]
    C0034378 (quality control)
    Detailed inclusion/exclusion criteria can be found at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898362/bin/439_2013_1369_MOESM1_ESM.docx
    Beschrijving

    Elig.phs000893.v1.p1.2

    Datatype

    boolean

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

    Similar models

    Eligibility Criteria

    Name
    Type
    Description | Question | Decode (Coded Value)
    Datatype
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Elig.phs000893.v1.p1.1
    Item
    Cases included women who were newly diagnosed with endometrial cancer. Controls from nested case-control studies were cancer free at the time of case diagnosis. Controls from case-control studies must have had an intact uterus (i.e. no hysterectomies). All subjects must have provided biospecimens. Subject IDs whose genotyping did not pass quality control were excluded.
    boolean
    C1516637 (UMLS CUI [1,1])
    C1706256 (UMLS CUI [1,2])
    C1518321 (UMLS CUI [1,3])
    C0476089 (UMLS CUI [1,4])
    C0470187 (UMLS CUI [1,5])
    C2347026 (UMLS CUI [1,6])
    C2348563 (UMLS CUI [1,7])
    C1516637 (UMLS CUI [2,1])
    C0009932 (UMLS CUI [2,2])
    C0006826 (UMLS CUI [2,3])
    C0332197 (UMLS CUI [2,4])
    C0042149 (UMLS CUI [2,5])
    C0205266 (UMLS CUI [2,6])
    C0470187 (UMLS CUI [2,7])
    C2347026 (UMLS CUI [2,8])
    C0680251 (UMLS CUI [3,1])
    C1285573 (UMLS CUI [3,2])
    C0034378 (UMLS CUI [3,3])
    Elig.phs000893.v1.p1.2
    Item
    Detailed inclusion/exclusion criteria can be found at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898362/bin/439_2013_1369_MOESM1_ESM.docx
    boolean
    C3846158 (UMLS CUI [1,1])

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