ID

45826

Beschrijving

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

Trefwoorden

  1. 29-07-23 29-07-23 - Simon Heim
Houder van rechten

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

Geüploaded op

29 juli 2023

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs001044 Breast Cancer Risk Pathways

Eligibility Criteria

Inclusion and exclusion criteria
Beschrijving

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.
Beschrijving

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.

Datatype

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

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])
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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