CGEMS Backgrounder

The ultimate goal of the Cancer Genetic Markers of Susceptibility (CGEMS) initiative is to pinpoint common variation in genes that can contribute to the risk for prostate and breast cancer.

To help meet the Challenge Goal of eliminating suffering and death due to cancer by 2015, the National Cancer Institute (NCI) is capitalizing on the momentum generated by recent advances in human genetic research. For many years, it has been appreciated that genetics contribute to susceptibility to cancers, both common and rare. New knowledge gained from the Human Genome Project and the International HapMap Project now provide the opportunity for an in-depth analysis of how genetics can contribute to cancer. A new strategic initiative, Cancer Genetic Markers of Susceptibility (CGEMS), is a three-year study designed to identify common genetic variations associated with risk for prostate and breast cancer, the second-leading cause of cancer-related death in men and the second-leading cause of cancer-related death in women, respectively. This NCI initiative will be coordinated through the Division of Cancer Epidemiology and Genetics (DCEG), the NCI Core Genotyping Facility (CGF), and the NCI Office of Cancer Genomics (OCG).

CGEMS will analyze the entire genome for the most common type of genetic variation, the single nucleotide polymorphism (SNP). SNPs (pronounced “snips”) are naturally occurring differences in the nucleotide (chemical building block) sequence of DNA. By studying large populations of individuals with and without disease, the CGEMS research can provide powerful indicators as to which SNP variations are associated with each disease. This particular study design is especially valuable for unraveling the genetic origins of complex diseases such as prostate and breast cancer.

CGEMS will focus on two of the most common cancers in the United States, prostate and breast cancer. The aim is to analyze SNPs within the DNA of patients with prostate cancer or patients with breast cancer and compare those to SNPs in patients without cancer (control group). The initial scan will analyze more than 500,000 SNPs in each cancer patient and control. If a particular SNP variation is found to be associated with cancer in the initial population, these candidate genetic risk factors will be further studied in additional populations. A genetic variation associated with increased risk is termed a susceptibility factor, while one associated with a decreased risk is termed a protective factor. Once the genetic risk factors are identified, they can serve as tools to better understand the biological basis of cancer. This knowledge may lead to new methods of intervention and prevention of prostate and breast cancer.

CGEMS will evaluate the data from this new research for quality and make it publicly available to the entire research community via the National Cancer Institute’s cancer Biomedical Informatics Grid™ (caBIG ™). The timely sharing of results with other scientists and investigators will encourage the development of novel ways to analyze the data, and accelerate the pace of research toward the prevention, early detection, and treatment of cancer.