Abstract: The genetic contributions to breast cancer development among Latinas are not well understood. Here we carry out a genome-wide association study of breast cancer in Latinas and identify a genome-wide significant risk variant, located 5′ of the Estrogen Receptor 1 gene (ESR1; 6q25 region). The minor allele for this variant is strongly protective (rs140068132: odds ratio (OR) 0.60, 95% confidence interval (CI) 0.53–0.67, P=9 × 10−18), originates from Indigenous Americans and is uncorrelated with previously reported risk variants at 6q25. The association is stronger for oestrogen receptor-negative disease (OR 0.34, 95% CI 0.21–0.54) than oestrogen receptor-positive disease (OR 0.63, 95% CI 0.49–0.80; P heterogeneity=0.01) and is also associated with mammographic breast density, a strong risk factor for breast cancer (P=0.001). rs140068132 is located within several transcription factor-binding sites and electrophoretic mobility shift assays with MCF-7 nuclear protein demonstrate differential binding of the G/A alleles at this locus. These results highlight the importance of conducting research in diverse populations. ; Version of Record
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204111/pdf/; Nature Communications; Fejerman, L., N. Ahmadiyeh, D. Hu, S. Huntsman, K. B. Beckman, J. L. Caswell, K. Tsung, et al. 2014. “Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.” Nature Communications 5 (1): 5260. doi:10.1038/ncomms6260. http://dx.doi.org/10.1038/ncomms6260.; http://nrs.harvard.edu/urn-3:HUL.InstRepos:14351126
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