title: Association of BRCA1 K1183R polymorphism with survival in BRCA1/2-negative chinese familial breast cancer.
abstract: BACKGROUND
  To determine whether a common BRCA1 K1183R polymorphism (3667A > G) affects survival in BRCA1/2-negative Chinese familial breast cancer. We investigated the associations between the BRCA1 E1183R polymorphism and disease-free survival and clinicopathological characteristics in a cohort of 325 Chinese familial breast cancer patients without BRCA1/2 germline mutations.
  
  
  METHODS
  K1183R polymorphism was detected by polymerase chain reaction (PCR)-sequencing assay.
  
  
  RESULTS
  Among the 325 Chinese familial breast cancer patients, the frequencies of the genotypes of E1183R polymorphism were 81.5% for wild-type (AA), 14.5% for heterozygote (AG), and 4.0% for variant (GG). No significant association between the genotypes and clinicopathological characteristics was found. There was a trend association that patients with the AA genotype had a better disease-free survival than those with the AG/GG genotype in univariate analysis (p = 0.111), but patients with AA genotype had a significantly better disease-free survival than did patients with AG or GG genotype in the HER2 positive subgroup (p = 0.012).
  
  
  CONCLUSIONS
  The present study suggests that the AA genotype of BRCA1 K1183R polymorphism is associated with a favorable survival in HER2 positive familial breast cancer patients.
authors.affiliation: Department of Intervention and Radiology, Yijishan Hospital of Wannan Medical College, Wuhu, 241001, China.
authors.forename: Renguang
authors.initials: R
authors.lastname: Pei
authors.affiliation: Department of Head and Neck Surgery, Zhejiang Cancer Hospital, Hangzhou 310022, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Wang
authors.affiliation: Department of Intervention and Radiology, Yijishan Hospital of Wannan Medical College, Wuhu, 241001, China.
authors.forename: Yunfeng
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing 100142, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing 100142, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Ouyang
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing 100142, China.
authors.forename: Benyao
authors.initials: B
authors.lastname: Li
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing 100142, China.
authors.forename: Yuntao
authors.initials: Y
authors.lastname: Xie
mesh_terms: D000328:Adult; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D017931:DNA Primers; D018572:Disease-Free Survival; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D017931:DNA Primers