0 Evaluaciones

ID

45826

Descripción

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

Palabras clave

  1. 29/7/23 29/7/23 - Simon Heim
Titular de derechos de autor

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

Subido en

29 de julio de 2023

DOI

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Licencia

Creative Commons BY 4.0

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    dbGaP phs001044 Breast Cancer Risk Pathways

    Eligibility Criteria

    Inclusion and exclusion criteria
    Descripción

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693 (Inclusion)
    UMLS CUI [1,2]
    C0680251 (Exclusion Criteria)
    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.
    Descripción

    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 de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C5142998 (More than one)
    LOINC
    LA30123-6
    UMLS CUI [1,2]
    C1517194 (First Degree Relative)
    UMLS CUI [1,3]
    C0006142 (Malignant neoplasm of breast)
    SNOMED
    254837009
    UMLS CUI [1,4]
    C0085973 (Case Study)
    UMLS CUI [1,5]
    C0009932 (Control Groups)
    UMLS CUI [1,6]
    C0150103 (MATCHING)
    UMLS CUI [1,7]
    C0001779 (Age)
    SNOMED
    424144002
    LOINC
    LP28815-6
    UMLS CUI [2,1]
    C0332232 (Approximate)
    SNOMED
    26175008
    UMLS CUI [2,2]
    C4554048 (Study Participant)
    UMLS CUI [2,3]
    C3816499 (Pathogenic Variant)
    LOINC
    LA6668-3
    UMLS CUI [2,4]
    C0376571 (BRCA1 gene)
    LOINC
    LP19666-4
    UMLS CUI [2,5]
    C0598034 (BRCA2 gene)
    LOINC
    LP31855-7
    UMLS CUI [3,1]
    C0332232 (Approximate)
    SNOMED
    26175008
    UMLS CUI [3,2]
    C2825407 (Half)
    UMLS CUI [3,3]
    C4554048 (Study Participant)
    UMLS CUI [3,4]
    C0205272 (Regular)
    SNOMED
    17854005
    LOINC
    LA15487-4
    UMLS CUI [3,5]
    C0205419 (Variant)
    SNOMED
    40885006
    UMLS CUI [4,1]
    C4554048 (Study Participant)
    UMLS CUI [4,2]
    C0086287 (Females)
    SNOMED
    1086007

    Similar models

    Eligibility Criteria

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de datos
    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])

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