title: Association between CHEK2 H371Y mutation and response to neoadjuvant chemotherapy in women with breast cancer.
abstract: BACKGROUND
  Our previous study suggested that the recurrent CHEK2 H371Y mutation is a novel pathogenic mutation that confers an increased risk of breast cancer. The purpose of this study was to investigate whether breast cancer patients with CHEK2 H371Y mutation were more likely to respond to neoadjuvant chemotherapy.
  
  
  METHODS
  We screened a cohort of 2334 Chinese women with operable primary breast cancer who received a neoadjuvant chemotherapy regimen for CHEK2 H371Y germline mutations. Pathologic complete response (pCR) was defined as the absence of tumor cells in the breast after the completion of neoadjuvant chemotherapy.
  
  
  RESULTS
  Thirty-nine patients (1.7%) with CHEK2 H371Y germline mutation were identified in this cohort of 2334 patients. CHEK2 H371Y mutation carriers had a significantly higher pCR rate than non-carriers (33.3% versus 19.5%, P = 0.031) in the entire study population, and CHEK2 H371Y mutation-positive status remained an independent favorable predictor of pCR in a multivariate analysis (odds ratio [OR] = 3.01; 95% confidence interval [CI]: 1.34- 6.78, P = 0.008). CHEK2 H371Y carriers had a slightly worse distant recurrence-free survival than non-carriers (adjusted hazard ratio [HR] =1.24, 95% CI: 0.59-2.63).
  
  
  CONCLUSIONS
  CHEK2 H371Y mutation carriers are more likely to respond to neoadjuvant chemotherapy than are non-carriers.
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing, 100142, Peoples' Republic of China. liuyin@bjmu.edu.cn.
authors.forename: Yin
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing, 100142, Peoples' Republic of China. xuye@bjmu.edu.cn.
authors.forename: Ye
authors.initials: Y
authors.lastname: Xu
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing, 100142, Peoples' Republic of China. ouyanghongtao@263.net.
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, Peoples' Republic of China. Jinfeng_li@hotmail.com.
authors.forename: Jinfeng
authors.initials: J
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, Peoples' Republic of China. sytobj@126.com.
authors.forename: Tianfeng
authors.initials: T
authors.lastname: Wang
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing, 100142, Peoples' Republic of China. zhqfan@sina.com.
authors.forename: Zhaoqing
authors.initials: Z
authors.lastname: Fan
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing, 100142, Peoples' Republic of China. fantie7876@126.com.
authors.forename: Tie
authors.initials: T
authors.lastname: Fan
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing, 100142, Peoples' Republic of China. benyaolin@163.com.
authors.forename: Benyao
authors.initials: B
authors.lastname: Lin
authors.affiliation: Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing, 100142, Peoples' Republic of China. zlxyt2@bjmu.edu.cn.
authors.forename: Yuntao
authors.initials: Y
authors.lastname: Xie
mesh_terms: D000328:Adult; D000368:Aged; D054316:Biomarkers, Pharmacological; D001943:Breast Neoplasms / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D064447:Checkpoint Kinase 2 / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D020360:Neoadjuvant Therapy
chemical_list: D054316:Biomarkers, Pharmacological; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human