Department of Medical Oncology, Shanghai Pulmonary Hospital, Tongji University Medical School Cancer Institute, Tongji University School of Medicine, No. 507 Zhengmin Road, Shanghai 200433, People's Republic of China.
Lung Cancer. 2013 Aug;81(2):162-6. doi: 10.1016/j.lungcan.2013.05.004. Epub 2013 May 30.
Epidermal growth factor receptor (EGFR) activating mutation is an important predictive biomarker of EGFR tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer (NSCLC), while family history of cancer also plays an important role in the neoplasia of lung cancer. This study aimed to investigate the association between family history of cancer and EGFR mutation status in NSCLC population.
From February 2008 to May 2012, 538 consecutive NSCLC patients with known EGFR mutation status were included into this study. Amplification refractory mutation system (ARMS) method was used to detect EGFR mutation. The associations between EGFR mutation and family history of cancer were evaluated using logistic regression models.
EGFR activating mutation was found in 220 patients and 117 patients had family cancer histories among first-degree relatives. EGFR mutation was more frequently detected in adenocarcinoma patients (p < 0.001), never-smoker (p < 0.001) and with family history of cancer (p = 0.031), especially who had family history of lung cancer (p = 0.008). In multivariate analysis, the association of EGFR mutation with family history of cancer also existed (p = 0.027).
NSCLC patients with family history of cancer, especially family history of lung cancer, might have a significantly higher incidence of EGFR activating mutation.
表皮生长因子受体（EGFR）激活突变是预测非小细胞肺癌（NSCLC）患者接受 EGFR 酪氨酸激酶抑制剂（TKI）治疗的重要生物标志物，而癌症家族史在肺癌的发生中也起着重要作用。本研究旨在探讨 NSCLC 人群中癌症家族史与 EGFR 突变状态之间的关系。
本研究纳入了 2008 年 2 月至 2012 年 5 月期间 538 例已知 EGFR 突变状态的连续 NSCLC 患者。采用扩增受阻突变系统（ARMS）方法检测 EGFR 突变。采用逻辑回归模型评估 EGFR 突变与癌症家族史之间的关系。
在 220 例 EGFR 激活突变患者中，有 117 例患者的一级亲属中有癌症家族史。EGFR 突变在腺癌患者（p<0.001）、从不吸烟者（p<0.001）和有癌症家族史的患者（p=0.031）中更频繁地被检测到，尤其是有肺癌家族史的患者（p=0.008）。多变量分析显示，EGFR 突变与癌症家族史之间也存在关联（p=0.027）。
有癌症家族史，尤其是肺癌家族史的 NSCLC 患者，可能有更高的 EGFR 激活突变发生率。
