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Name of Collaboratory :


Cancer Genetic Markers for Susceptibility (CGEMS)


URL :  

Collaboratory Status :

In Development   Start Date : 2005 End Date : Info Last Updated : Sat, Dec 4 2010 1:01am PST

Primary Collaboratory Function :

  Distributed Research Center  

Secondary Collaboratory Functions :

  Community Data Systems  

Domain(s) :

  BIOLOGICAL/AGRICULTURAL SCIENCES >Biological Sciences >Biomedical Sciences, BIOLOGICAL/AGRICULTURAL SCIENCES >Biological Sciences >Pathology, Human and Animal  

Brief Description of the Collaboratory :


The Cancer Genetic Markers of Susceptibility (CGEMS) project was launched in 2005 to identify common inherited genetic variations associated with risk for breast and prostate cancer. In collaboration with extramural scientists, NCI's Division of Cancer Epidemiology and Genetics has developed the CGEMS initiative into a robust research program involving genome-wide association studies (GWASs) for a number of cancers, and more recently, exposures and survival.

CGEMS relies upon data from the NCI Cohort Consortium as well as collaborative case-control epidemiologic studies with biospecimens. By scanning the DNA collected from individuals participating in these cohort or case-control studies, scientists have identified inherited genetic variants associated with cancer risk that may lead to new preventive, diagnostic, and therapeutic interventions. In the future, researchers will apply fine-mapping and deep sequencing techniques to regions or loci identified by these scans to pinpoint the specific functional variants responsible for disease risk and the biologic mechanisms involved.

These large-scale consortial arrangements make it possible to combine study resources in a coordinated intramural-extramural approach that enables rapid replication of positive findings using independent data sets. When reproducible findings emerge in the consortia, the pooling of data sets provides the statistical power to quantify the risks associated with specific gene variants and exposures, and enables subset analyses that uncover gene-gene and gene-environment interactions. This collaborative infrastructure presents the cancer research community with an extraordinary opportunity to advance research while taking advantage of economies of scale. It also provides an opportunity for NCI to partner with other NIH Institutes to investigate a series of complex diseases and traits including diabetes, cardiovascular, neurological disorders, obesity, and smoking behaviors.

By making the data available to both intramural and extramural research scientists, as well as those in the private sector through rapid posting, NIH can leverage its resources to ensure that the dramatic advances in genomics are incorporated into rigorous population-based studies. Ultimately, findings from these studies may yield new preventive, diagnostic, and therapeutic interventions for cancer.


Access to Instruments :


Access to Information Resources :

  The raw genotype data from each of the CGEMS projects is available for download to accredited investigators, upon approval of a Data Access Request.

The committee that votes on approval of data access requests is the Data Access Committee. This consists of 9 voting federal employees, 2 external study PIs, ans 3 support. They have a biweekly meeting and approval requires a unanimous vote.

Once access is granted, data can not be shared between institutions. There are strict security requirements.

Access to People as Resources :


Funding Agency or Sponsor :

United States Department of Health and Human Services
National Institutes of Health (NIH)
National Cancer Institute (NCI)

Notes on Funding Agencies/Sponsors:

Organizations with Funded Participants:
Organization name:
Approx # of participants:
Description of organization's role(s):
United States Department of Health and Human Services
   National Institutes of Health (NIH)
      National Cancer Institute (NCI)
         Division of Cancer Epidemiology and Genetics (NCI) (DCEG)
         Office of Cancer Genomics
         Core Genotyping Facility (CGF)
Harvard University
   Harvard School of Public Health

Notes on Participants/Organizations:
Apparently a large number of organizations are involved but it is extremely difficult to find out which organizations they are for some reason. Most of the ones listed above were listed as acknowledgments in a presentation.


Communications Technology Used :


Technical Capabilities :

  Key Articles :    

Project-reported performance data :

  As of 1/24/08 there were 34 requests for data access received and 29 requests approved with user accounts issued.  
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