Cancer is a disease of complex genetic alterations, and comprehensive genetic diagnosis is beneficial to match each patient to appropriate therapy. However, acquisition of representative tumor samples is invasive and sometimes impossible. Circulating tumor DNA (ctDNA) is a promising tool to use as a non-invasive biomarker for cancer mutation profiling. Here we implemented targeted next generation sequencing (NGS) with a customized gene panel of 382 cancer-relevant genes on 605 ctDNA samples in multiple cancer types. Overall, tumor-specific mutations were identified in 87% of ctDNA samples, with mutation spectra highly concordant with their matched tumor tissues. 71% of patients had at least one clinically-actionable mutation, 76% of which have suggested drugs approved or in clinical trials. In particular, our study reveals a unique mutation spectrum in Chinese lung cancer patients which could be used to guide treatment decisions and monitor drug-resistant mutations. Taken together, our study demonstrated the feasibility of clinically-useful targeted NGS-based ctDNA mutation profiling to guide treatment decisions in cancer.
基金:
National Natural Science Foundation of China [81302109]; Geneseeq Technology Inc. Canada; Nanjing Geneseeq Technology Inc. China
语种:
外文
被引次数:
WOS:
PubmedID:
中科院(CAS)分区:
出版当年[2017]版:
大类|3 区综合性期刊
小类|3 区综合性期刊
最新[2023]版:
大类|2 区综合性期刊
小类|2 区综合性期刊
第一作者:
第一作者机构:[1]Nanjing Med Univ, Affiliated Hosp 1, Jiangsu Prov Hosp, Nanjing, Jiangsu, Peoples R China
通讯机构:[2]Geneseeq Technol Inc, Toronto, ON, Canada
推荐引用方式(GB/T 7714):
Shu Yongqian,Wu Xue,Tong Xiaoling,et al.Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types[J].SCIENTIFIC REPORTS.2017,7(1):-.doi:10.1038/s41598-017-00520-1.
APA:
Shu, Yongqian,Wu, Xue,Tong, Xiaoling,Wang, Xiaonan,Chang, Zhili...&Shao, Yang W..(2017).Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types.SCIENTIFIC REPORTS,7,(1)
MLA:
Shu, Yongqian,et al."Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types".SCIENTIFIC REPORTS 7..1(2017):-