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Published on: April 11, 2016

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

Ning Lv1, Xiaoming Xie, Qidong Ge

  • 1Department of Breast Oncology, Sun Yat-Sen University Cancer Center, Guangzhou, Guangdong 510060, PR China.

Diagnostic Pathology
|December 3, 2011
PubMed
Abstract

Insights

Epidermal growth factor receptor (EGFR) gene amplification is frequent in breast cancer, unlike rare mutations. Gene copy number may be a viable biomarker for anti-EGFR therapy selection in breast cancer patients.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Epidermal growth factor receptor (EGFR) is a therapeutic target in breast cancer.
  • Assessing EGFR gene alterations is crucial for targeted therapy selection.

Purpose of the Study:

  • To evaluate the prevalence of EGFR gene amplification and mutations in Chinese female breast cancer patients.
  • To determine the association between EGFR gene amplification and mutation status.

Main Methods:

  • Investigated EGFR gene amplification using fluorescence in-situ hybridization (FISH).
  • Analyzed EGFR gene mutations via fluorescently labeled real-time quantitative polymerase chain reaction (RT-PCR).
  • Studied 139 formalin-fixed, paraffin-embedded breast cancer tissues.

Main Results:

  • EGFR gene amplification detected in 33.1% of cases.
  • EGFR gene mutations found in only 1.4% of samples.
  • High EGFR gene copy number correlated significantly with EGFR protein expression (P=0.002).

Conclusions:

  • EGFR mutations are rare in this cohort, suggesting limited utility in anti-EGFR therapy trials.
  • EGFR gene amplification is common and may serve as a predictive biomarker for EGFR-targeted therapies.
  • Further research is warranted to validate EGFR gene copy number as a screening tool for breast cancer treatment.

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