title: Epidermal growth factor receptor in breast carcinoma: association between gene copy number and mutations.
abstract: BACKGROUND
  The epidermal growth factor receptor (EGFR) is an available target of effective anti-EGFR therapy for human breast cancer. The aim of this study was to assess the presence of EGFR gene amplification and mutations in breast cancer and to analyze the association between the statuses of these two gene alterations.
  
  
  METHODS
  EGFR gene amplification and mutations were investigated in formalin-fixed, paraffin-embedded tissues from 139 Chinese female patients with breast cancer by means of fluorescence in-situ hybridization (FISH) and fluorescently labeled real-time quantitative polymerase chain reaction (RT-PCR), respectively.
  
  
  RESULTS
  EGFR gene amplification was observed in 46/139 (33.1%) of cases by FISH. Based on RT-PCR, 2/139 (1.4%) samples had EGFR gene mutations. Overall, only 1 (0.7%) of the cases was identified with both whole gene amplification and mutation, and 92 (66.2%) of cases were negative for both. High gene copy numbers of EGFR had significant correlation with the occurrence of EGFR protein expressions (P = 0.002).
  
  
  CONCLUSIONS
  In this study, EGFR mutations were presented in only two samples, indicating that EGFR mutations should not be employed in future trials with anti-EGFR therapies for breast cancer. However, EGFR whole gene amplification is frequently observed in patients with breast cancer. It will be of significant interest to investigate whether EGFR gene copy number is a suitable screening test for EGFR-targeted therapy for breast cancer.
authors: Department of Breast Oncology, Sun Yat-Sen University Cancer Center, Guangzhou, Guangdong 510060, PR China.
authors: Ning
authors: N
authors: Lv
authors: Xiaoming
authors: X
authors: Xie
authors: Qidong
authors: Q
authors: Ge
authors: Suxia
authors: S
authors: Lin
authors: Xi
authors: X
authors: Wang
authors: Yanan
authors: Y
authors: Kong
authors: Hongliu
authors: H
authors: Shi
authors: Xinhua
authors: X
authors: Xie
authors: Weidong
authors: W
authors: Wei
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology; D015331:Cohort Studies; D066246:ErbB Receptors / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005784:Gene Amplification; D018628:Gene Dosage / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008207:Lymphatic Metastasis; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging; D046888:Tissue Array Analysis
chemical_list: D066246:ErbB Receptors