Essential meiotic endonuclease 1 homolog 1 （EME1） is a key DNA repair protein that participates in the rec- ognition and repair of DNA double-strand breaks. Deficiency of the EME1 gene can lead to spontaneous genomi...Essential meiotic endonuclease 1 homolog 1 （EME1） is a key DNA repair protein that participates in the rec- ognition 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 EME! （i.e.,Ile350Thr： rs12450550T 〉 C and Glu69Asp： rs3760413T 〉 G） and breast cancer risk. We found that compared to the common lie/lie genotype, the Thr variant genotypes （Thr/lle ＋ Thr/Thr） conferred a 1.47-fold increased risk of breast cancer （OR=1.47, 95% CI=I. 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 carders and 46.5 years for Thr/lle genotype carriers, which was significantly lower than that （49.4 years） for Ile/Ile genotype carriers （P = 0.006）. Moreover, no significant as- sociation 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.展开更多
EMS1基因(chromosom e eleven,band q13,m amm ary tumour and squamous cell carc inom a-assoc iated gene1)定位于人类染色体11q13。该基因编码产物cortactin(cortical actin-b ind ing prote in)是一种位于细胞皮质区的肌动蛋白结...EMS1基因(chromosom e eleven,band q13,m amm ary tumour and squamous cell carc inom a-assoc iated gene1)定位于人类染色体11q13。该基因编码产物cortactin(cortical actin-b ind ing prote in)是一种位于细胞皮质区的肌动蛋白结合蛋白,参与细胞骨架系统的调控,细胞外信号转导以及细胞黏附等过程。研究表明EMS1基因与许多肿瘤的侵袭和转移有关。展开更多
基金supported by the National Natural Science Foundation of China (grants 30671813,30872178,81072366,and 81273149)Guangdong Provincial High Level Experts Grants (No.2010-79)+1 种基金Changjiang Scholars and Innovative Research Team in University grant (No.IRT0961)Guangdong Natural Science Foundation Team Grant (No.10351012003000000 to Dr.J.Lu)
文摘Essential meiotic endonuclease 1 homolog 1 （EME1） is a key DNA repair protein that participates in the rec- ognition 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 EME! （i.e.,Ile350Thr： rs12450550T 〉 C and Glu69Asp： rs3760413T 〉 G） and breast cancer risk. We found that compared to the common lie/lie genotype, the Thr variant genotypes （Thr/lle ＋ Thr/Thr） conferred a 1.47-fold increased risk of breast cancer （OR=1.47, 95% CI=I. 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 carders and 46.5 years for Thr/lle genotype carriers, which was significantly lower than that （49.4 years） for Ile/Ile genotype carriers （P = 0.006）. Moreover, no significant as- sociation 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.
文摘EMS1基因(chromosom e eleven,band q13,m amm ary tumour and squamous cell carc inom a-assoc iated gene1)定位于人类染色体11q13。该基因编码产物cortactin(cortical actin-b ind ing prote in)是一种位于细胞皮质区的肌动蛋白结合蛋白,参与细胞骨架系统的调控,细胞外信号转导以及细胞黏附等过程。研究表明EMS1基因与许多肿瘤的侵袭和转移有关。
