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Discovering the causes of cancer and the means of prevention

Cancer Genetic Markers of Susceptibility (CGEMS) Project

Executive Summary

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, DCEG has developed the CGEMS initiative into a robust research program involving genome-wide association studies (GWAS) 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.