Publication: Current strategies in the search for low penetrance genes in cancer
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Date
2008
Authors
Milne, Roger L. ; Benítez, Javier
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Publisher
Murcia : F. Hernández
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DOI
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info:eu-repo/semantics/article
Description
Abstract
The genetic etiology of most cancers remains
largely unclear and it has been hypothesised that
common genetic variants with modest effects on disease
susceptibility cause the bulk of this unexplained risk.
Case-control association studies are considered the most
effective strategy to identify these low-penetrance genes.
While traditionally, such studies have focused on
putative functional single nucleotide polymorphisms
(SNPs) in candidate genes, a more comprehensive
approach can now be taken, as a result of a number of
recent developments: the mapping of the human
genome, including the identification of almost ten
million SNPs; and the development of high-throughput
genotyping technologies that enable hundreds of
thousands of SNPs to be genotyped in a single reaction,
in multiple subjects and at an affordable cost. All
common genomic variation can be captured by
genotyping SNPs in gene-, pathway- or genome-widebased
strategies and these are now being applied to
many diseases, including cancer. We present an outline
of each of these approaches, including recent published
examples, and discuss a number of challenges that
remain to be addressed.
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