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ID

45826

Beschreibung

Principal Investigator: Andrea H. Bild, PhD, University of Utah, Salt Lake City, UT, USA MeSH: Breast Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001044 We sought to identify genomic variants that differed between individuals who developed familial breast cancer and individuals who had a family history of breast cancer but who had not developed breast cancer. We aggregated these data at the pathway level to identify pathways that play a role in familial breast cancer development. We profiled peripheral blood cells, extracted DNA, and sequenced the DNA using exome-capture sequencing to identify genomic variants in these samples. For 34 of the 35 samples, we also profiled peripheral blood using Affymetrix Human Exon 1.0 ST Array microarrays. Those data can be found in Gene Expression Omnibus under accession identifier GSE47862.

Link

dbGaP study = phs001044

Stichworte

  1. 29.07.23 29.07.23 - Simon Heim
Rechteinhaber

Andrea H. Bild, PhD, University of Utah, Salt Lake City, UT, USA

Hochgeladen am

29. Juli 2023

DOI

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Lizenz

Creative Commons BY 4.0

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    dbGaP phs001044 Breast Cancer Risk Pathways

    This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, and histological type.

    pht005275
    Beschreibung

    pht005275

    Alias
    UMLS CUI [1,1]
    C3846158
    De-identified Sample ID
    Beschreibung

    SAMPLE_ID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C4684638
    UMLS CUI [1,2]
    C1299222
    Body site where sample was collected
    Beschreibung

    BODY_SITE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0449705
    Analyte Type
    Beschreibung

    ANALYTE_TYPE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C4744818
    Tumor status
    Beschreibung

    IS_TUMOR

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0475752
    Cell or tissue type or subtype of sample
    Beschreibung

    HISTOLOGICAL_TYPE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2347026
    UMLS CUI [1,2]
    C0007634
    UMLS CUI [1,3]
    C0332307
    UMLS CUI [2,1]
    C2347026
    UMLS CUI [2,2]
    C0007634
    UMLS CUI [2,3]
    C0449560
    UMLS CUI [3,1]
    C1292533
    UMLS CUI [3,2]
    C0332307
    UMLS CUI [4,1]
    C1292533
    UMLS CUI [4,2]
    C0449560

    Ähnliche Modelle

    This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, and histological type.

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht005275
    C3846158 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    De-identified Sample ID
    string
    C4684638 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    BODY_SITE
    Item
    Body site where sample was collected
    string
    C0449705 (UMLS CUI [1,1])
    ANALYTE_TYPE
    Item
    Analyte Type
    string
    C4744818 (UMLS CUI [1,1])
    Item
    Tumor status
    text
    C0475752 (UMLS CUI [1,1])
    Code List
    Tumor status
    CL Item
    Is not a tumor (N)
    C0027651 (UMLS CUI [1,1])
    C1518422 (UMLS CUI [1,2])
    CL Item
    Is Tumor (Y)
    C0027651 (UMLS CUI [1,1])
    HISTOLOGICAL_TYPE
    Item
    Cell or tissue type or subtype of sample
    string
    C2347026 (UMLS CUI [1,1])
    C0007634 (UMLS CUI [1,2])
    C0332307 (UMLS CUI [1,3])
    C2347026 (UMLS CUI [2,1])
    C0007634 (UMLS CUI [2,2])
    C0449560 (UMLS CUI [2,3])
    C1292533 (UMLS CUI [3,1])
    C0332307 (UMLS CUI [3,2])
    C1292533 (UMLS CUI [4,1])
    C0449560 (UMLS CUI [4,2])

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