title: BRCA2 promoter polymorphism is associated with breast cancer prognosis in Chinese women.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pathology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Abdominal Surgical Oncology, Cancer Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing 100021, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Fang
authors.affiliation: Department of Stomatology, Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215004, China.
authors.forename: Jianlin
authors.initials: J
authors.lastname: Fan
authors.affiliation: Department of Obstetrics and Gynaecology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China.
authors.forename: Jianming
authors.initials: J
authors.lastname: Hu
authors.affiliation: Department of Radiation Oncology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China.
authors.forename: Xiaoting
authors.initials: X
authors.lastname: Xu
authors.affiliation: Department of Anesthesiology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China.
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Jin
authors.affiliation: Department of Pathology, Soochow University, Suzhou, Jiangsu 215006, China.
authors.forename: Xiuzhen
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Pathology, Soochow University, Suzhou, Jiangsu 215006, China.
authors.forename: Min
authors.initials: M
authors.lastname: Deng
authors.affiliation: Department of Abdominal Surgical Oncology, Cancer Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing 100021, China. Email: wwwjjj1234@vip.sina.com.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Pathology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China. Email: wliu3sz@gmail.com.
authors.forename: Wei
authors.initials: W
authors.lastname: Liu
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*