Background: Endometriosis is a common benign gynaecological disease. Epidemiological studies have demonstrated associations between endometriosis and ovarian cancer. Recent genome-wide association studies of ovarian cancer have identified several single nucleotide polymorphisms (SNPs) in the Basonuclin 2 (BNC2) gene. In this study, we investigated these polymorphism in women with endometriosis.
Methods: Six SNPs in and upstream of the BNC2 gene (rs3814113, rs4445329, rs10962656, rs12379183, rs10756819 and rs1339552) were investigated using TaqMan allelic discrimination analysis in a Caucasian population (cases: 798, controls: 351). Allelic frequencies were used as main outcome measure.
Results: No associations were observed between the analysed SNPs and endometriosis.
Conclusions: Our results suggest that the analysed polymorphisms in the BNC2 gene are unlikely to contribute to the previously reported risk of ovarian cancer in women with endometriosis.