title: Prevalence of BRCA1 mutations and responses to neoadjuvant chemotherapy among BRCA1 carriers and non-carriers with triple-negative breast cancer.
abstract: BACKGROUND
  The frequency of BRCA1 germline mutations among Chinese women with triple-negative breast cancer is unclear, and the association between BRCA1 mutations and the response to neoadjuvant chemotherapy in women with triple-negative breast cancer has not been determined.
  
  
  METHODS
  Nine hundred and fifty-six triple-negative breast cancer patients were treated at our institute between 2003 and 2012; we tested the BRCA1/2 mutations for 956 patients and 953 patients in this cohort, respectively. Among the 956 patients, 652 patients received neoadjuvant chemotherapy.
  
  
  RESULTS
  In this cohort, 7.1% (68/956) and 2.3% (22/953) of patients carried a BRCA1 or BRCA2 mutation, respectively. The BRCA1/2 mutation rates were 10.5% and 3.0% among the patients who were diagnosed at or before the age of 50 in this cohort, respectively. The pCR (pathologic complete response) rate was 31.6% in the 652 patients who received neoadjuvant chemotherapy. BRCA1 carriers had a significantly higher pCR rate than non-carriers (BRCA1 carriers versus non-carriers, 53.8% versus 29.7%, P < 0.001). Among women treated with anthracycline with or without taxane regimens, the pCR rate was 57.1% for BRCA1 carriers, 29.0% for non-carriers (P < 0.001); among women treated with taxane regimens, the pCR rate was 40.0% for BRCA1 carriers, 32.9% for non-carriers (P = 0.73). At a median follow-up of 43 months, the recurrence-free survival was similar between BRCA1 carriers and non-carriers among the 947 patients of this study (adjusted hazard ratio = 0.92; 95% confidence interval: 0.45-1.90; P = 0.82).
  
  
  CONCLUSIONS
  Chinese women with triple-negative breast cancer who are diagnosed at or before age of 50 are candidates for BRCA1 genetic testing. Among triple-negative breast cancer patients, BRCA1 carriers are more likely to respond to neoadjuvant anthracycline-based regimens than are non-carriers.
authors.affiliation: Breast Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, PR China.
authors.forename: C
authors.initials: C
authors.lastname: Wang
authors.affiliation: Breast Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, PR China.
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Breast Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, PR China.
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Breast Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, PR China.
authors.forename: T
authors.initials: T
authors.lastname: Ouyang
authors.affiliation: Breast Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, PR China.
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.affiliation: Breast Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, PR China.
authors.forename: T
authors.initials: T
authors.lastname: Wang
authors.affiliation: Breast Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, PR China.
authors.forename: Z
authors.initials: Z
authors.lastname: Fan
authors.affiliation: Breast Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, PR China.
authors.forename: T
authors.initials: T
authors.lastname: Fan
authors.affiliation: Breast Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, PR China.
authors.forename: B
authors.initials: B
authors.lastname: Lin
authors.affiliation: Breast Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, PR China zlxyt2@bjmu.edu.cn.
authors.forename: Y
authors.initials: Y
authors.lastname: Xie
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018943:Anthracyclines / Q000008:administration & dosage; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D020360:Neoadjuvant Therapy / Q000639:trends; D015995:Prevalence; D064726:Triple Negative Breast Neoplasms / Q000188:drug therapy* / Q000453:epidemiology / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D018943:Anthracyclines; C111164:BRAP protein, human; D044767:Ubiquitin-Protein Ligases
keywords: BRCA1 mutations; neoadjuvant chemotherapy; triple-negative breast cancer