Population genetic tools: application to cancer.

The availability of a reference human genome sequence, an increasingly dense catalog, knowledge of common genetic variation, and new developments in technology present an unprecedented opportunity to systematically explore the genetic basis of complex human diseases such as cancer. An understanding of the common mutations that can cause distinct human cancers will be critical for identifying new targets for drug discovery, patient stratification for clinical trials, and analysis of drug response data to delineate classes of patients that respond to therapy. The genome structure of cancer can be examined in several ways: (1) large-scale case-control or family studies can investigate germline mutations; and (2) state-of-the-art genomic technologies (eg, high-density oligonucleotide arrays and targeted re-sequencing), can identify somatic alterations. Combined, these approaches will lead to a better understanding of the cancer genome.