Genome-wide association studies of cancer

Zsofia K. Stadler, Peter Thom, Mark E. Robson, Jeffrey N. Weitzel, Noah D. Kauff, Karen E. Hurley, Vincent Devlin, Bert Gold, Robert J. Klein, Kenneth Offit

Research output: Contribution to journalReview articlepeer-review

141 Scopus citations


Knowledge of the inherited risk for cancer is an important component of preventive oncology. In addition to well-established syndromes of cancer predisposition, much remains to be discovered about the genetic variation underlying susceptibility to common malignancies. Increased knowledge about the human genome and advances in genotyping technology have made possible genome-wide association studies (GWAS) of human diseases. These studies have identified many important regions of genetic variation associated with an increased risk for human traits and diseases including cancer. Understanding the principles, major findings, and limitations of GWAS is becoming increasingly important for oncologists as dissemination of genomic risk tests directly to consumers is already occurring through commercial companies. GWAS have contributed to our understanding of the genetic basis of cancer and will shed light on biologic pathways and possible new strategies for targeted prevention. To date, however, the clinical utility of GWAS-derived risk markers remains limited.

Original languageEnglish
Pages (from-to)4255-4267
Number of pages13
JournalJournal of Clinical Oncology
Issue number27
StatePublished - 20 Sep 2010
Externally publishedYes


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