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- Study Description
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Important Links and Information
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Request access via Authorized Access
- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
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).
- Study Weblinks:
- Study Design:
- Prospective Longitudinal Cohort
- Study Type:
- Cohort
- dbGaP estimated ancestry using GRAF-pop
- Total number of consented subjects: 11841
- Subject Sample Telemetry Report (SSTR)
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Request access via Authorized Access
- Authorized Access
- Publicly Available Data (Public ftp)
- Study Inclusion/Exclusion Criteria
Samples were genotyped using the Illumina OncoArray Beadchip 500K SNP custom array. Samples with call rates <95% and samples with extreme heterozygosity (>4.9 standard deviations from the mean for the reported ethnicity) were excluded. Samples were also excluded if they were of non-European ancestry using multi-dimensional scaling analysis. The sample quality control process is described in detail in Milne et al, Identification of ten variants associated with risk of estrogen receptor negative breast cancer, Nat Genet (in press). Related individuals are retained in the sample. The OncoArray SNP quality control process is described in detail in Amos et al, The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers, Cancer Epidemiol Biomarkers Prev. 2017. PubMed_link
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Targeted Genotyping Illumina Infinium OncoArray-500k BeadChip N/A N/A http://www.illumina.com/products/infinium-oncoarray-500k-beadchip-kit.html - Study History
CIMBA was established in 2006 and now has participating groups from 38 countries around the world. Further information can be found in the following paper.
Chenevix-Trench, G., Milne, R., Antoniou, A.C., Couch, F., Easton, D., Goldgar, D. on behalf of CIMBA. An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Research 9(2):104 (2007) PubMed_link
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Breast Neoplasms
- Ovarian Neoplasms
- Links to Related Genes
- Links to Related Resources
- Authorized Data Access Requests
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See research articles citing use of the data from this study
- Study Attribution
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Principal Investigators
- Christopher I Amos, PhD. Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
- Fergus J Couch, PhD. Mayo Clinic, Rochester, MN, USA.
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Funding Source
- X01HG007491 under contract number HHSN268201200008I. National Institutes of Health, Bethesda, MD, USA.
- CA128978. National Institutes of Health, Bethesda, MD, USA.
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Genotyping Center
- Center for Inherited Disease Research (CIDR). Johns Hopkins University, Baltimore, MD, USA.
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Funding Source for Genotyping
- HHSN268201200008I, NIH contract "High throughput genotyping for studying the genetic contributions to human disease". National Institutes of Health, Bethesda, MD, USA.
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Principal Investigators