机构：[1]Department of Pathology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China[2]Department of Obstetrics and Gynaecology ，First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China[3]Department of Radiation Oncology，First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China[4]Department of Anesthesiology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China[5]Department of Abdominal Surgical Oncology, Cancer Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing 100021, China[6]Department of Stomatology, Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215004, China[7]Department of Pathology, Soochow University, Suzhou, Jiangsu 215006, China
Breast cancer 2 (BRCA2) is an important breast cancer-susceptibility gene. Promoter polymorphisms in BRCA2 may affect its transcription and be associated with cancer prognosis.
We identified five polymorphisms of the BRCA2 promoter region by in silico searching and direct sequencing: -254A/G (rs3092989), -908A/G (rs206117), -1134A/G (rs206115), -1144C/T (rs206116), and -1260CTTAGA/- (rs3072036). The -908A/G, -1134A/G, -1144C/T, and -1260CTTAGA/- polymorphisms were genotyped by direct sequencing in 491 breast cancer patients, and the -254A/G polymorphism was genotyped by Sequenom.
The -1144C/T polymorphism was associated with clinical outcome. Carriers of the TT genotype had longer disease-free intervals (DFIs, P = 0.029), especially among patients with sporadic unilateral breast cancer (P = 0.010). Linkage disequilibrium (LD) analysis showed that all the five single nucleotide polymorphisms (SNPs) were in LD (D' > 0.8). Carriers of haplotypes containing the -1144T allele showed longer DFIs (P = 0.049), and the result was more significant in patients with sporadic unilateral cancer (P = 0.018). There were no significant associations between the other polymorphisms and DFI.
The results of this study suggest that homozygosity for the BRCA2 T(-1144) allele is associated with a longer DFI in Chinese women with breast cancer. Further functional studies are warranted to clarify this relationship.
基金：
This study was supported by grants from the National Natural
Science Foundation of China (No. 31100944); the Natural Science
Foundation of Jiangsu Province, China (No. BK2009107); the
Natural Science Foundation of the Higher Education Institutions
of Jiangsu Province, China (No. 09KJB320017); and the Suzhou
Technology Development Program (No. SYS201017).
第一作者机构：[1]Department of Pathology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China
共同第一作者：
通讯作者：
通讯机构：[1]Department of Pathology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China[5]Department of Abdominal Surgical Oncology, Cancer Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing 100021, China
推荐引用方式(GB/T 7714)：
Liu Lu,Fang Yi,Fan Jianlin,et al.BRCA2 promoter polymorphism is associated with breast cancer prognosis in Chinese women.[J].Chinese medical journal.2014,127(11):2012-5.
APA：
Liu Lu,Fang Yi,Fan Jianlin,Hu Jianming,Xu Xiaoting...&Liu Wei.(2014).BRCA2 promoter polymorphism is associated with breast cancer prognosis in Chinese women..Chinese medical journal,127,(11)
MLA：
Liu Lu,et al."BRCA2 promoter polymorphism is associated with breast cancer prognosis in Chinese women.".Chinese medical journal 127..11(2014):2012-5
