Who's in the Driver's Seat? Identifying Causative Variants of Colorectal Cancer

摘要

Colorectal Cancer (CRC) is one of the leading causes of mortality in the US, being the third most common cancer among both men and women. While an exact cause of CRC has not yet been elucidated, the existence of a clear heritable genetic component has been established. With the recent surge of data from Genome-Wide Association Studies, a handful of CRC-associated loci have been identified via tagSNPs. While the probability of the tagSNPs themselves being the causative variants is low, the key may lie among the number of single-base variants linked to each tagSNP. It is crucial, in order to enhance our understanding CRC tumorigenesis, to extract these functional variants from the pool of associated SNPs and validate their causative significance within the cell.