title: The prevalence of BRCA1/2 mutations of triple-negative breast cancer patients in Xinjiang multiple ethnic region of China.
abstract: BACKGROUND
  The screening of BRCA1 and BRCA2 mutations is now an established component of risk evaluation and management of familial breast cancer, early-onset breast cancer and bilateral breast cancer patients. There is still some controversy about whether this screening should be done in triple-negative breast cancers. Therefore, we evaluated the BRCA mutation prevalence in patients with triple-negative breast cancer in a multi-ethnic region of China.
  
  
  METHODS
  A total 96 women who were diagnosed with triple-negative breast cancer in the Xinjiang region of China were enrolled in this study. BRCA1 and BRCA2 screening was performed by polymerase chain reaction-denaturing high-performance liquid chromatography (PCR-DHPLC) sequencing analysis. All mutations were confirmed with direct sequencing.
  
  
  RESULTS
  The prevalence of a BRCA1/2 germline mutation was about 25% (24/96) in the Xinjiang region of China. Among 35 selected cases with a family history and/or bilateral breast cancers, the BRCA1/2 mutation prevalence was 25.7% (9/35). Of the remaining 61 patients with unselected triple-negative breast cancer, the BRCA1/2 mutation prevalence was 24.6% (15/61), and all 15 individuals with these mutations were premenopausal patients.
  
  
  CONCLUSIONS
  These results suggest that premenopausal women with triple-negative breast cancer may be candidates for genetic testing for BRCA1/2 in the Xinjiang region of China, even in the absence of a family history or bilateral breast cancer.
authors: Yong Tao
authors: YT
authors: Li
authors: Duo
authors: D
authors: Ni
authors: Liang
authors: L
authors: Yang
authors: Qian
authors: Q
authors: Zhao
authors: Department of Breast Surgery, Tumor Hospital, Xinjiang Medical University, 789 East Suzhou Street, Urumqi 830011, China. oujianghua@hotmail.com.
authors: Jiang Hua
authors: JH
authors: Ou
mesh_terms: D000328:Adult; D002681:China / Q000453:epidemiology; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D015995:Prevalence; D064726:Triple Negative Breast Neoplasms / Q000235:genetics*; D055815:Young Adult