Abstract
Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women. Women with a family history of EC have an increased risk for the disease, suggesting that inherited genetic factors play a role. We conducted a two-stage genome-wide association study of Type I EC. Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies. We selected independent single-nucleotide polymorphisms (SNPs) that displayed the most significant associations with EC in Stage 1 for replication among 17,948 women (4,382 cases and 13,566 controls) in a multiethnic population (African America, Asian, Latina, Hawaiian and European ancestry), from nine studies. Although no novel variants reached genome-wide significance, we replicated previously identified associations with genetic markers near the HNF1B locus. Our findings suggest that larger studies with specific tumor classification are necessary to identify novel genetic polymorphisms associated with EC susceptibility.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-013-1369-1) contains supplementary material, which is available to authorized users.
Highlights
Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women
The discovery phase of the genomewide association studies (GWAS) (Stage 1) was conducted among women of European ancestry and was restricted to Type 1 EC, the most common subtype accounting for 80–90 % of all cases in women of European descent
Our present study reports results from a new independent GWAS of EC based on a total of 7,077 cases and 16,343 controls from the E2C2 (Table 1)
Summary
Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women (www.cancer.org 2013). This disease primarily affects postmenopausal women and is more common in women of European ancestry. In the USA in 2013, an estimated 49,560 women may develop EC and 8,190 may die from the disease, a case fatality similar to that of breast cancer. The estimated lifetime risk of women developing the disease in the USA is 1 in 38 (www.cancer.org 2013). Type I ECs, the most common in women of European ancestry (80–90 %), are mostly endometrioid adenocarcinomas (EA). The remaining 10–20 % of ECs are Type II, which predominantly consist of serous and clear cell carcinomas
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