Abstract
This American Association for Cancer Research Special Conference brought together scientists with diverse expertise to address issues related to use of appropriate epidemiological, statistical, and laboratory methods to study the genetic epidemiology of cancer. Discussions focused on experiences with association studies using single nucleotide polymorphisms and haplotypes, their limitations, and what is needed to improve on the current 'state of the art'. Various studies were presented in different contexts, ranging from candidate gene studies to whole genome scans, and conducted in prospective cohorts, case-control studies, and other study designs. Common problems such as determining the probability that observed associations are false negative or false positive, the potential effects of admixture, and determining which polymorphisms to examine in which genes and in which populations were examined. Problems specific to haplotype analysis were discussed, with emphasis on haplotype block structures and on how to use haplotypes in analysis. Questions were also posed as to determining the functional relevance of single nucleotide polymorphisms in molecular epidemiology. Finally, future directions, using specific examples, were addressed.
Highlights
In their letter to conference attendees, Drs Timothy Rebbeck, Fred Kadlubar, and Christine Ambrosone proposed three main questions as aims to be targeted in the Special Conference
This American Association for Cancer Research Special Conference brought together scientists with diverse expertise to address issues related to use of appropriate epidemiological, statistical, and laboratory methods to study the genetic epidemiology of cancer
Discussions focused on experiences with association studies using single nucleotide polymorphisms and haplotypes, their limitations, and what is needed to improve on the current ‘state of the art’
Summary
In their letter to conference attendees, Drs Timothy Rebbeck, Fred Kadlubar, and Christine Ambrosone proposed three main questions as aims to be targeted in the Special Conference. What have we learned from association studies of single nucleotide polymorphisms (SNPs)? What have we been unable to accomplish and why? What approaches are required to improve the state of the science?. The conference was aimed primarily at epidemiologists who are either performing association studies with SNPs and haplotypes, or who are planning to do so in the near future
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