Document Detail

Scanning the horizon: what is the future of genome-wide association studies in accelerating discoveries in cancer etiology and prevention?
MedLine Citation:
PMID:  17440825     Owner:  NLM     Status:  MEDLINE    
Genome-wide association studies using recently developed large scale single nucleotide polymorphism platforms are beginning to be performed, and results reported. Initial indications are that these studies are capable of discovering loci associated with relative risks too modest to have been detectable through family-based linkage studies. However, as these studies initially test 500,000 or more polymorphisms in a first series of cases and controls, the need for robust replication in one, or preferably, several independent studies is paramount to winnow out the true positive results from the large number of expected false positives. We discuss the need for the formation of consortia to conduct these multi-stage studies, and stress the importance of full disclosure of allele frequencies in cases and controls from these studies in order to facilitate joint analyses across datasets to speed discovery of reproducible associations, and to explore more complex associations such as gene-gene interactions. Desirable characteristics of studies in which genome-wide association studies will be most informative are discussed. The validation of genetic variants that alter risk of specific cancers may be relevant to screening, the identification of high risk persons for risk-reducing interventions, and the discovery of new biological mechanisms that may provide insight into cancer causes and preventive strategies.
D J Hunter; G Thomas; R N Hoover; S J Chanock
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Publication Detail:
Type:  Journal Article; Review     Date:  2007-04-17
Journal Detail:
Title:  Cancer causes & control : CCC     Volume:  18     ISSN:  0957-5243     ISO Abbreviation:  Cancer Causes Control     Publication Date:  2007 Jun 
Date Detail:
Created Date:  2007-05-02     Completed Date:  2007-09-11     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9100846     Medline TA:  Cancer Causes Control     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  479-84     Citation Subset:  IM    
Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, USA.
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MeSH Terms
Genetic Predisposition to Disease*
Genetic Testing / trends*
Genomics / trends*
Neoplasms / genetics*,  prevention & control*
Polymorphism, Single Nucleotide

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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