Epidermal growth factor receptor in breast carcinoma: association between gene copy number and mutations.
Epidermal growth factor receptor in breast carcinoma: association between gene copy number and mutations.
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乳腺癌中的表皮生长因子受体：基因拷贝数与突变之间的关联
DOI：
10.1186/1746-1596-6-118
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发表时间：
2011-12-02
影响因子：
2.6
通讯作者：
Wei W
中科院分区：
文献类型：
--
作者：
Lv N;Xie X;Ge Q;Lin S;Wang X;Kong Y;Shi H;Xie X;Wei W
表皮生长因子受体（EGFR）是抗EGFR治疗乳腺癌的有效靶点。本研究的目的是评估乳腺癌中EGFR基因扩增和突变的存在，并分析这两种基因改变状态之间的关联。采用荧光原位杂交（FISH）和荧光标记实时定量聚合酶链反应（RT-PCR）技术，对139例中国女性乳腺癌患者石蜡包埋组织中EGFR基因扩增和突变情况进行了研究。FISH检测EGFR基因扩增率为33.1%（46/139）。基于RT-PCR，2/139（1.4%）例样本存在EGFR基因突变。总的来说，只有1例（0.7%）的病例被鉴定为全基因扩增和突变，92例（66.2%）的病例均为阴性。EGFR高拷贝数与EGFR蛋白表达的发生有显著相关性（P = 0.002）。在这项研究中，仅在两个样本中显示了EGFR突变，这表明EGFR突变不应用于未来的乳腺癌抗EGFR治疗试验。然而，在乳腺癌患者中经常观察到EGFR全基因扩增。EGFR基因拷贝数是否是乳腺癌EGFR靶向治疗的一个合适的筛选指标，将是一个值得研究的问题。
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. 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. 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). 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.
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