Screening for Germline EGFR T790M Mutations Through Lung Cancer Genotyping

摘要: Introduction The study of patients carrying germline endothelial growth factor receptor ( EGFR ) mutations, which have been found in cases familial lung adenocarcinoma, could provide unique insight into cancer risk and carcinogenesis never-smokers. However, investigations the biology mutations hampered by lack an effective strategy for screening carriers. We hypothesized that with cancers to harbor T790M resistance mutation before treatment, uncommon occurrence, would be likely carry underlying mutations. Methods Eleven unrelated cancer, harboring mutation, were identified from a 7-year institutional experience tumor genotyping. Ten had benign tissue available, was anonymously tested presence Results Five 10 carried (50%, confidence interval 27%–73%). One patient's exhibited distinctive indolent growth, has also described preclinical studies T790M-mutant cancers. A second patient underwent resection six separate primary adenocarcinomas, each different sensitizing T790M. Conclusions Genotyping cancers, now commonly performed predict benefit treatment tyrosine kinase inhibitors, can used as tool identify at Once identified, these their families studied prospectively explore appropriate strategies. Further using existing oncogenomic data genetics are warranted.