Genome-Wide Association Study of Endometrial Cancer in E2C2

Endometrial cancer, the most common gynecological malignancy in the United States, has both an environmental and genetic component. To this end, we conducted a genome-wide association study to identify genes involved in endometrial cancer using studies from the NCI-supported Epidemiology of Endometrial Cancer Consortium (E2C2). For the discovery stage we included samples from 6 cohort and 7 case control studies through 2007. The total number of cases genotyped were 2,307, white women of European descent, and 2,307 matched controls using the Illumina HumanOmniExpress platform. We conducted the replication using the Infinium HumanExome BeadChip, which successfully genotyped 177,139 variants in 1055 cases and 1778 controls from four ethnically diverse studies that are part of the Epidemiology of Endometrial Cancer Consortium (E2C2). The overall goal is to determine whether certain genotypes are predictive of future endometrial cancer risk, and whether the genotypes interact with established endometrial risk factors.]]>
Cases included women who were newly diagnosed with endometrial cancer. Controls from nested case-control studies were cancer free at the time of case diagnosis. Controls from case-control studies must have had an intact uterus (i.e. no hysterectomies). All subjects must have provided biospecimens. Subject IDs whose genotyping did not pass quality control were excluded. Detailed inclusion/exclusion criteria can be found at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898362/bin/439_2013_1369_MOESM1_ESM.docx ]]>