Cancer Genetic Markers of Susceptibility (CGEMS) Breast Cancer Genome-Wide Association Study (GWAS) - Primary Scan (Stage 1) - Nurses' Health Study

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
• Participants:
  

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).

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.

• Breast Neoplasms

• Lead Principal Investigator
  • Stephen J. Chanock. Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute and Core Genotyping Facility, Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health, Department (NIH), Department of Health and Human Services (DHHS), Bethesda, MD, USA
• Co-Principal Investigators
  • David J. Hunter. Channing Laboratory, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA
  • Margaret Tucker. DCEG, NCI, NIH, DHHS, Bethesda, MD, USA
  • Daniela S. Gerhard. Office of Cancer Genomics, NCI, NIH, DHHS, Bethesda, MD, USA
  • Joseph F. Fraumeni. DCEG, NCI, NIH, DHHS, Bethesda, MD, USA
  • Robert Hoover. DCEG, NCI, NIH, DHHS, Bethesda, MD, USA
  • Gilles Thomas. DCEG, NCI, NIH, DHHS, Bethesda, MD, USA
• Institute
  • Channing Laboratory, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
  • Program in Molecular and Genetic Epidemiology, Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA.
  • Broad Institute of Harvard and MIT, Boston, MA, USA.
  • Bioinformed Consulting Services, Gaithersburg, MD, USA.
  • SAIC-Frederick, NCI - Frederick Cancer Research and Development Center, Frederick, MD, USA.