Breast cancer susceptibility polymorphisms and endometrial cancer risk: a Collaborative Endometrial Cancer Study

Abstract

Recent large--scale association studies, both of genome-wide and candidate gene design, have revealed several single-nucleotide polymorphisms (SNPs) which are significantly associated with risk of developing breast cancer. As both breast and endometrial cancers are considered to be hormonally driven and share multiple risk factors, we investigated whether breast cancer risk alleles are also associated with endometrial cancer risk. We genotyped nine breast cancer risk SNPs in up to 4188 endometrial cases and 11,928 controls, from between three and seven Caucasian populations. None of the tested SNPs showed significant evidence of association with risk of endometrial cancer.

Fig. 1.

Forest plots showing per allele OR and 95% CIs for each SNP (risk allele) by study. The size of the black box is proportional to the study size. The diamond represents the OR and 95% CIs for the meta-analysis of each SNP. Per allele ORs and 95% CIs for breast cancer (reference in brackets) are shown for comparison at the bottom of each Forest plot. *Results for ANECS rs3857481 were imputed using a subset of the ANECS cases (n = 599) (5) matched to an alternative control group (1958 Birth Cohort controls n = 2694 and National Blood Donor controls n = 2496) (21).