Cancer Genetic Markers of Susceptibility (CGEMS) is a three-year initiative, funded for $14 million that will conduct scans of the entire human genome (genotyping) to identify common, inherited gene mutations that increase the risks for breast and prostate cancer.
The initiative will begin with the scanning of a total of 2,500 samples from men who have been diagnosed with prostate cancer, and men who have not. Illumina Inc. will conduct the rapid genotyping for the project.
Previous studies have identified single gene mutations that cause cancer or are linked to other inherited diseases.
These studies have provided early insights into potential mechanisms of inherited cancer susceptibility, but these mutations are rare in the general population and directly related to only a small proportion of human cancer.
In fact, most human cancer risk appears to be due, at least in part, to mutations that have low penetrance, meaning that they convey a low risk for cancer, but combinations of these mutations increase risk.
One of the main goals of CGEMS is to identify genetic alterations that contribute to cancer risk, particularly the common low-penetrance, low-risk mutations.
What makes CGEMS and other association studies different from candidate gene studies is that these association studies investigate the entire genome, with no assumptions about which alterations cause prostate or breast cancer.
In addition, CGEMS has incorporated important follow-up studies in its design. The promising SNPs will then be analyzed and validated in a series of large, population-based studies.
The validated SNPs will be further investigated to develop strategies for prevention, earlier detection, and treatment of these cancers.
"The mapping of the human genome opened new frontiers of science," said NIH Director Elias A. Zerhouni, M.D.
"Projects like the National Cancer Institute's CGEMS, and the collaboration between NCI and the National Human Genome Research Institute on The Cancer Genome Atlas, will expand our knowledge and understanding of the genetics of disease."
"The CGEMS initiative represents the largest, comprehensive undertaking to identify the genetic risk factors for two cancers that take the lives of a combined total of more than 70,000 men and women every year," said NCI Deputy Director Anna D. Barker, Ph.D.
"This project promises to provide a needed database to support the development of novel strategies for the early detection and prevention of these diseases."
The initiative will use the latest genetic technologies and scan the human genome by analyzing as many as 500,000 or more SNPs in each cancer case or control individual.
"CGEMS is among the first large whole genome scanning projects in cancer, and we are hopeful that its results will provide promising new insights into understanding genetic risk and common cancers, like breast and prostate cancer," stated Stephen J. Chanock, M.D., director of NCI's Advanced Technology Center Core Genotyping Facility.
"For many years, we've known that genetics contribute to an individual's risk of cancer. Capitalizing on the extraordinary momentum generated by advances in human genomic research, CGEMS is truly a different approach," explained David Hunter, M.D. an NCI Eminent Scholar and professor of cancer prevention at the Harvard School of Public Health.
To facilitate and encourage the development of this new research, CGEMS will make the data available to the entire cancer research community via NCI's caBIG™ (the cancer Biomedical Informatics Grid).