ID
45826
Description
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.
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Versions (1)
- 7/29/23 7/29/23 - Simon Heim
Copyright Holder
Andrea H. Bild, PhD, University of Utah, Salt Lake City, UT, USA
Uploaded on
July 29, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs001044 Breast Cancer Risk Pathways
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject ID, consent information, and case control status for breast cancer.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table contains subject ID, whether the subject had developed cancer, age when blood sample was collected, mutated gene, and gene expression identifier.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, and histological type.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject ID, consent information, and case control status for breast cancer.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table contains subject ID, whether the subject had developed cancer, age when blood sample was collected, mutated gene, and gene expression identifier.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, and histological type.
C0680251 (UMLS CUI [1,2])
C1517194 (UMLS CUI [1,2])
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C0085973 (UMLS CUI [1,4])
C0009932 (UMLS CUI [1,5])
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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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