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Diagnostic Pathology
Published in: Diagnostic Pathology 1/2011

Open Access 01-12-2011 | Research

Epidermal growth factor receptor in breast carcinoma: association between gene copy number and mutations

Authors: Ning Lv, Xiaoming Xie, Qidong Ge, Suxia Lin, Xi Wang, Yanan Kong, Hongliu Shi, Xinhua Xie, Weidong Wei

Published in: Diagnostic Pathology | Issue 1/2011

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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.

Materials and 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).

Conclusion

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.

Virtual Slides

The virtual slides for this article can be found here: http://​www.​diagnosticpathol​ogy.​diagnomx.​eu/​vs/​2521111805741248​
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Metadata
Title
Epidermal growth factor receptor in breast carcinoma: association between gene copy number and mutations
Authors
Ning Lv
Xiaoming Xie
Qidong Ge
Suxia Lin
Xi Wang
Yanan Kong
Hongliu Shi
Xinhua Xie
Weidong Wei
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2011
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/1746-1596-6-118

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