Cancer Genetic Markers of Susceptibility (CGEMS)

The Cancer Genetic Markers of Susceptibility (CGEMS) project began in 2005 as a 3-year pilot study to identify inherited genetic susceptibility to prostate and breast cancer. CGEMS has developed into a successful research program of genome-wide association studies (GWAS) to identify genetic variants that affect a person’s risk of developing cancer. The program was managed by the NCI Office of Cancer Genomics in collaboration with NCI’s Division of Cancer Epidemiology and Genetics (DCEG). DCEG has built upon the success of the project and has expanded it to identify the risk factors for pancreatic, lung and bladder cancers.

CGEMS relies upon populations 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 studies, scientists have identified inherited genetic variants associated with cancer risk that may lead to new preventive, diagnostic, and therapeutic interventions. Researchers then apply fine-mapping and DNA 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.

The large-scale consortia make it possible to combine resources in a coordinated intramural-extramural approach that enables rapid replication of positive findings using independent data sets. In the consortia, the pooling of data sets provides the statistical power to quantify the risks associated with specific gene variants and environmental exposures, and enables 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. Consortia also provide an opportunity for NCI to partner with other NIH Institutes to investigate cancer together with other complex diseases and traits including diabetes, cardiovascular, neurological disorders, obesity, and smoking behaviors.

CGEMS makes data available to both intramural and extramural research scientists (including those in the private sector) through rapid posting. Therefore, NCI and NIH can leverage its resources to ensure that the dramatic advances in genomics are incorporated into rigorous population-based studies.

The data generated by CGEMS prostate cancer study is available through the CGEMS data access portal.

To learn more about the Cancer Genetic Markers of Susceptibility Program, visit http://cgems.cancer.gov.

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