The non-coding genome in cancer

The completion of the Human Genome Project in 2003 led to the launch of several major projects, including the international HapMap Project to identify genetic variants and haplotypes in the human genome (1), the 1000 Genomes Project to characterize the frequency of genetic variants in human populations (2), the ENCODE project to identify functional elements in the human genome (3,4), and the ROADMAP project to assess epigenetic alternation of DNA sequences (5). All these projects have yielded unprecedented information on the human genome: for instance, exon regions of genes are seen to make up less than 2% of the human genome. Most of the human genome (98%) is thus non-coding but contains many regulatory elements, including enhancers, silencers, insulators, or locus control regions (LCR).