title: Effect of EME1 exon variant Ile350Thr on risk and early onset of breast cancer in southern Chinese women.
abstract: Essential meiotic endonuclease 1 homolog 1 (EME1) is a key DNA repair protein that participates in the recognition and repair of DNA double-strand breaks. Deficiency of the EME1 gene can lead to spontaneous genomic instability and thus contribute to tumorgenesis. We hypothesized that the exon variants of EME1 confer genetic susceptibility to breast cancer. In a case-control study of 748 breast cancer patients and 778 normal controls, we analyzed the association between two exon variants of EME1 (i.e.,Ile350Thr: rs12450550T > C and Glu69Asp: rs3760413T > G) and breast cancer risk. We found that compared to the common Ile/Ile genotype, the Thr variant genotypes (Thr/Ile + Thr/Thr) conferred a 1.47-fold increased risk of breast cancer (OR=1.47, 95% CI=1.13-1.92). The variant Ile350Thr was also associated with early onset of breast cancer (r = -0.116, P = 0.002). The mean age of onset was 44.4 years for Thr/Thr genotype carriers and 46.5 years for Thr/Ile genotype carriers, which was significantly lower than that (49.4 years) for Ile/Ile genotype carriers (P = 0.006). Moreover, no significant association was observed between the Glu69Asp variant and breast cancer risk. Our findings suggest that the EME1 variant Ile350Thr contributes to an increased risk and early onset of breast cancer.
authors.affiliation: The Institute for Chemical Carcinogenesis, the State Key Lab of Respiratory Disease, Guangzhou Medical University, Guangzhou, Guangdong 510182, China; ; Baiyun Women and Children Hospital, Guangzhou, Guangdong 510400, China;
authors.forename: Jianwei
authors.initials: J
authors.lastname: Zhao
authors.forename: Lin
authors.initials: L
authors.lastname: Liu
authors.forename: Anqing
authors.initials: A
authors.lastname: Zhang
authors.forename: Qin
authors.initials: Q
authors.lastname: Chen
authors.forename: Wenxiang
authors.initials: W
authors.lastname: Fang
authors.forename: Lizhi
authors.initials: L
authors.lastname: Zeng
authors.forename: Jiachun
authors.initials: J
authors.lastname: Lu
keywords: EME1; breast cancer; early onset; exon variant