Abstract
Abstract Introduction: Endometrial cancer is the most common gynecological cancer in developed countries. While so far no genome-wide association study (GWAS) has been published for endometrial cancer this approach has been very successful in identifying susceptibility loci for various cancer sites. Interestingly, these GWAS have discovered susceptibility loci that are associated with multiple cancer sites, such as in the 8q24 or TERT-CLPTM1L locus. To comprehensively explore such pleiotropic effects for endometrial cancer we evaluated whether GWAS hits for different cancer sites are associated with risk of endometrial cancer. Methods: We included 965 endometrial cancer cases and 5759 controls aged 50-79 years from the Women's Health Initiative, which were genotyped as part of the Population Architecture using Genomics and Epidemiology (PAGE) study. We selected 175 single nucleotide polymorphisms (SNPs) previously shown to be associated with different cancer sites mostly in GWAS. We coded SNPs using additive genetic models and used logistic regression to estimate per allele odds ratios (OR) and 95% confidence intervals (CI). Race/ethnicity-specific models were adjusted for age and post-menopausal hormone use. Results: Among whites the two most independent significant SNPs were rs7501939/17q12 [odds ratio (OR)=0.82; 95% confidential interval (CI)=0.74-0.92; p-value=3.4e-4], and rs4324715/5q31 (OR=0.85; 95%CI=0.76-0.94; p-value=1.5e-3). Interestingly, these two variants have been related to cancers of the male reproductive system (prostate and testicular cancer, respectively) in prior GWAS. When adjusting for multiple comparisons (p=2.86e-4) only one variant (rs7501939) remained marginally significant. The number of other ancestral groups, such as African American or Asian (n=72) was too small to allow separate analysis. Conclusion: This first analysis suggests that susceptibility loci of the male reproductive system may be associated with endometrial cancer. The next step in this analysis will be to incorporate data from the other PAGE studies to improve the power, explore effects across different ethnicities and to expand our analysis to evaluate gene-environment interactions, particularly looking at hormone related factors. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 5619. doi:10.1158/1538-7445.AM2011-5619
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