Abstract
The centromeric region flanking the MYC oncogene on 8q24 harbors at least 5 independent loci associated with prostate cancer as well as additional loci associated with distinct cancers of the breast, colon, bladder, and chronic lymphocytic leukemia, all discovered in genome-wide association studies (GWAS). One of the regions has been defined as a 250kb span of 8q24 by linkage disequilibrium (LD) pattern and recombination hotspots (chr8:128050768-128300801, hg19) that contains prostate cancer susceptibility loci rs13254738 and rs16901979, as well as a locus rs2456449 associated with chronic lymphocytic leukemia. Because GWAS identify genetic markers, fine-mapping, based on sequence analysis is necessary to define the optimal variants for biological follow-up. Sequence analysis in distinct populations can provide important insights into the differences in patterns of LD and thus narrow down high interest variants. We have resequenced this region in samples of African ancestry using next-generation technology to comprehensively catalogue variations. Our study sample set included a total of 128 individuals from a population-based study in Ghana. In comparison to the 1000 genome data, we have identified additional variants, which could be important in establishing priorities for future functional work, designed to explain the biological basis of the association signal for both prostate cancer and chronic lymphocytic leukemia.
Citation Information: Cancer Epidemiol Biomarkers Prev 2011;20(10 Suppl):B42.
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