Cancer Research Center Hotline: Genome-Wide Association Studies and Cancer

摘要

The power of genome-wide association studies was first recognized in 1996,1 but it has taken a decade for advances in technology to make these studies possible and affordable. The first step in this process was the completion of the human genome project. This project sequenced the entire human genome and determined that it contains just over 3.2 billion basepairs (the smallest unit of DNA) and approximately 22,000 genes. In addition to the genes themselves, there are thought to be a large number of gene regulatory elements that control the activity of genes. If each gene were a light bulb, the regulatory elements would be light switches that turn the genes on and off. Variation in the genes or the sequences that regulate them can alter the risk of human disease.