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Study Description

The Cancer Genetic Markers of Susceptibility (CGEMS) breast cancer genome-wide association study (GWAS) included genotyping 528,173 SNPs (Illumina HumanHap550) in 1,145 postmenopausal women of European ancestry with invasive breast cancer and 1,142 controls from the Nurses' Health Study (NHS).

  • Study Weblinks: CGEMS; CGEMS Data Portal
  • Study Type: Case-Control
  • Number of study subjects that have individual level data available through Authorized Access: 2287

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

All study participants who were menopausal at blood draw with a confirmed diagnosis of invasive breast cancer and had sufficient stored blood available for DNA extraction at the time of case and control selection were included as cases in the CGEMS project. Controls were matched to cases based on age, blood collection variables (time, date, and year of blood collection, as well as recent (<3 months) use of postmenopausal hormones), ethnicity (all cases and controls are self-reported Caucasians), and menopausal status (all cases and controls were menopausal at blood draw).

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina HumanHap550v1.1 555352 38431
Study History

The Nurses' Health Study (NHS) is a longitudinal study of 121,700 women enrolled in 1976. The CGEMS case-control study is derived from 32,826 participants who provided a blood sample between 1989 and 1990 and were free of diagnosed breast cancer at blood collection and followed for incident disease until May 2004. Cancer follow-up in the NHS was conducted by personal mailings and searches of the National Death Index. It is estimated that the percentage of true cancers captured by this system is greater than 90%. Permission was requested from all participants diagnosed with cancer to review medical records to confirm the diagnoses and obtain additional information on tumor histology, staging, and other characteristics.

Selected publications
Diseases/Traits Related to Study (MESH terms)
Authorized Data Access Requests
Study Attribution