Abstract：
BACKGROUND: Interest in hereditary lung cancer is increasing, in particular germline mutations in the Epidermal Growth Factor Receptor (EGFR) gene. We review the current literature on this topic, discuss risk of developing lung cancer, treatment and screening options and describe a family of 3 sisters with lung cancer and their unaffected mother all with a rare EGFR germline mutation (EGFR p.R776H).
METHODS: We searched PubMed, Medline, Embase, the Cochrane Library, Google Scholar and scanned reference lists of articles. Search terms included \"EGFR germline\" and \"familial lung cancer\" or \"EGFR familial lung cancer\". We also describe our experience of managing a family with rare germline EGFR mutant lung cancer.
RESULTS: Although the numbers are small, the described cases in the literature show several similarities. The patients are younger and usually have no or light smoking history. 50% of the patients were treated with a tyrosine kinase inhibitor (TKIs) with OS over six months.
CONCLUSIONS: Although rare, germline p.R776H EGFR lung cancer mutations are over-represented in light or never smoking female patients who often also possess an additional somatic EGFR mutation. Treatment with TKIs appears suitable but further research is needed into the appropriate screening regime for unaffected carriers or light/never smokers.
METHODS: We searched PubMed, Medline, Embase, the Cochrane Library, Google Scholar and scanned reference lists of articles. Search terms included \"EGFR germline\" and \"familial lung cancer\" or \"EGFR familial lung cancer\". We also describe our experience of managing a family with rare germline EGFR mutant lung cancer.
RESULTS: Although the numbers are small, the described cases in the literature show several similarities. The patients are younger and usually have no or light smoking history. 50% of the patients were treated with a tyrosine kinase inhibitor (TKIs) with OS over six months.
CONCLUSIONS: Although rare, germline p.R776H EGFR lung cancer mutations are over-represented in light or never smoking female patients who often also possess an additional somatic EGFR mutation. Treatment with TKIs appears suitable but further research is needed into the appropriate screening regime for unaffected carriers or light/never smokers.
摘要：
背景：对遗传性肺癌的兴趣正在增加，特别是表皮生长因子受体(EGFR)基因中的种系突变。我们回顾了关于这个主题的最新文献，讨论患肺癌的风险，治疗和筛查选择，并描述了一个由3个肺癌姐妹组成的家庭及其未受影响的母亲，他们都患有罕见的EGFR种系突变（EGFRp.R776H）。
方法：我们搜索了PubMed，Medline,Embase,Cochrane图书馆,谷歌学者和扫描的文章参考列表。搜索词包括“EGFR种系”和“家族性肺癌”或“EGFR家族性肺癌”。我们还描述了我们管理一个罕见种系EGFR突变肺癌家庭的经验。
结果：虽然数字很小，文献中描述的案例显示出几个相似之处。患者年龄较小，通常没有吸烟史或吸烟史。50％的患者接受酪氨酸激酶抑制剂（TKIs）治疗，OS超过6个月。
结论：虽然罕见，种系p.R776HEGFR肺癌突变在轻度或从不吸烟的女性患者中表现过多,这些女性患者通常还具有额外的体细胞EGFR突变.用TKIs治疗似乎是合适的，但需要进一步研究未受影响的携带者或轻度/从不吸烟者的适当筛查方案。
方法：我们搜索了PubMed，Medline,Embase,Cochrane图书馆,谷歌学者和扫描的文章参考列表。搜索词包括“EGFR种系”和“家族性肺癌”或“EGFR家族性肺癌”。我们还描述了我们管理一个罕见种系EGFR突变肺癌家庭的经验。
结果：虽然数字很小，文献中描述的案例显示出几个相似之处。患者年龄较小，通常没有吸烟史或吸烟史。50％的患者接受酪氨酸激酶抑制剂（TKIs）治疗，OS超过6个月。
结论：虽然罕见，种系p.R776HEGFR肺癌突变在轻度或从不吸烟的女性患者中表现过多,这些女性患者通常还具有额外的体细胞EGFR突变.用TKIs治疗似乎是合适的，但需要进一步研究未受影响的携带者或轻度/从不吸烟者的适当筛查方案。
