Scanning the horizon: What is the future of genome-wide association studies in accelerating discoveries in cancer etiology and prevention

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 detecta...

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Bibliographic Details
Published in:Cancer causes & control 2007-06, Vol.18 (5), p.479-484
Main Authors: Hunter, D. J, Thomas, G, Hoover, R. N, Chanock, S. J
Format: Article
Language:English
Subjects:
Breast cancer
Cancer
Datasets
DNA
Epidemiology
Genetic loci
Genetic Predisposition to Disease
Genetic Testing - trends
Genomes
Genomics - trends
Medical genetics
Neoplasms - genetics
Neoplasms - prevention & control
Polymorphism, Single Nucleotide
Prostate cancer
Tumors
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Summary: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.
ISSN:1573-7225
0957-5243
1573-7225
DOI:10.1007/s10552-007-0118-y