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ID

45826

Descrizione

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.

collegamento

dbGaP study = phs001044

Keywords

versioni (1)
  1. 29/07/23 29/07/23 - Simon Heim
Titolare del copyright

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

Caricato su

29 luglio 2023

DOI

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Licenza

Creative Commons BY 4.0
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    dbGaP phs001044 Breast Cancer Risk Pathways

    Inglese

    Eligibility Criteria

    5 moduli  
    Inclusion and exclusion criteria
    Descrizione

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0680251
    Individuals who were included in this study had at least one first degree relative who had developed breast cancer. Cases and controls were matched by age such that the ages of the controls were similar to the ages of the cases. Approximately half of the included participants carried known pathogenic variants in either BRCA1 or BRCA2. The remaining participants did not carry a known pathogenic variant of these genes (“BRCAX”). All participants were female.
    Descrizione

    Individuals who were included in this study had at least one first degree relative who had developed breast cancer. Cases and controls were matched by age such that the ages of the controls were similar to the ages of the cases. Approximately half of the included participants carried known pathogenic variants in either BRCA1 or BRCA2. The remaining participants did not carry a known pathogenic variant of these genes (“BRCAX”). All participants were female.

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C5142998
    UMLS CUI [1,2]
    C1517194
    UMLS CUI [1,3]
    C0006142
    UMLS CUI [1,4]
    C0085973
    UMLS CUI [1,5]
    C0009932
    UMLS CUI [1,6]
    C0150103
    UMLS CUI [1,7]
    C0001779
    UMLS CUI [2,1]
    C0332232
    UMLS CUI [2,2]
    C4554048
    UMLS CUI [2,3]
    C3816499
    UMLS CUI [2,4]
    C0376571
    UMLS CUI [2,5]
    C0598034
    UMLS CUI [3,1]
    C0332232
    UMLS CUI [3,2]
    C2825407
    UMLS CUI [3,3]
    C4554048
    UMLS CUI [3,4]
    C0205272
    UMLS CUI [3,5]
    C0205419
    UMLS CUI [4,1]
    C4554048
    UMLS CUI [4,2]
    C0086287
    Ritorna all'inizio della pagina

    Similar models

    Eligibility Criteria

    5 moduli
    Name
    genere
    Description | Question | Decode (Coded Value)
    Tipo di dati
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Individuals who were included in this study had at least one first degree relative who had developed breast cancer. Cases and controls were matched by age such that the ages of the controls were similar to the ages of the cases. Approximately half of the included participants carried known pathogenic variants in either BRCA1 or BRCA2. The remaining participants did not carry a known pathogenic variant of these genes (“BRCAX”). All participants were female.
    Item
    Individuals who were included in this study had at least one first degree relative who had developed breast cancer. Cases and controls were matched by age such that the ages of the controls were similar to the ages of the cases. Approximately half of the included participants carried known pathogenic variants in either BRCA1 or BRCA2. The remaining participants did not carry a known pathogenic variant of these genes (“BRCAX”). All participants were female.
    boolean
    C5142998 (UMLS CUI [1,1])
    C1517194 (UMLS CUI [1,2])
    C0006142 (UMLS CUI [1,3])
    C0085973 (UMLS CUI [1,4])
    C0009932 (UMLS CUI [1,5])
    C0150103 (UMLS CUI [1,6])
    C0001779 (UMLS CUI [1,7])
    C0332232 (UMLS CUI [2,1])
    C4554048 (UMLS CUI [2,2])
    C3816499 (UMLS CUI [2,3])
    C0376571 (UMLS CUI [2,4])
    C0598034 (UMLS CUI [2,5])
    C0332232 (UMLS CUI [3,1])
    C2825407 (UMLS CUI [3,2])
    C4554048 (UMLS CUI [3,3])
    C0205272 (UMLS CUI [3,4])
    C0205419 (UMLS CUI [3,5])
    C4554048 (UMLS CUI [4,1])
    C0086287 (UMLS CUI [4,2])
    Ritorna all'inizio della pagina 

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