ID
45636
Beschrijving
Principal Investigator: Christopher I Amos, PhD, Geisel School of Medicine at Dartmouth, Hanover, NH, USA MeSH: Breast Neoplasms,Ovarian Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001321 The data come from 40 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). CIMBA recruits individuals with pathogenic mutations in BRCA1 or BRCA2. The majority of carriers were recruited through cancer genetics clinics offering genetic testing, and were enrolled into national or regional studies. The remainder were identified by population-based sampling of cases, or community recruitment. Eligibility to participate is restricted to carriers of pathogenic BRCA1/2 mutations who were 18 years or older at recruitment. Information collected included amongst other variables: age at recruitment; ages at breast and ovarian cancer diagnosis; and estrogen receptor (ER) status. Samples were genotyped using the Illumina OncoArray beadchip 500K SNP custom array. Details of the genotyping process and sample selection are included in Phelan et al, Identification of twelve new susceptibility loci for different histotypes of epithelial ovarian cancer, Nat Genet. 2017 May;49(5):680-691 (PMID:28346442), and Milne et al, Identification of ten variants associated with risk of estrogen receptor negative breast cancer, Nat Genet (in press).
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Trefwoorden
Versies (1)
- 09-03-23 09-03-23 - Simon Heim
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Christopher I Amos, PhD, Geisel School of Medicine at Dartmouth, Hanover, NH, USA
Geüploaded op
9 maart 2023
DOI
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Licentie
Creative Commons BY 4.0
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dbGaP phs001321 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- 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 IDs, country of residence, mutated gene, censoring variable and age for use in breast cancer analysis and in ovarian cancer analysis, estrogen receptor status, and sample of European or non-European origin.
- This sample attributes table contains sample IDs, body site, analyte type, histological type, and tumor status.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- 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 IDs, country of residence, mutated gene, censoring variable and age for use in breast cancer analysis and in ovarian cancer analysis, estrogen receptor status, and sample of European or non-European origin.
- This sample attributes table contains sample IDs, body site, analyte type, histological type, and tumor status.
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