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Semin Oncol DOI:10.1053/j.seminoncol.2007.01.008

Population genetic tools: application to cancer.

Publication TypeJournal Article
Year of Publication2007
AuthorsGabriel, S
JournalSemin Oncol
Issue2 Suppl 1
Date Published2007 Apr
KeywordsCase-Control Studies, Genetic Variation, Genetics, Population, Genome, Human, Germ-Line Mutation, Haplotypes, Humans, Mutation, Neoplasms, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Targeted Gene Repair

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.


Alternate JournalSemin. Oncol.
PubMed ID17449348