Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types

Abstract 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...

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Autores principales:	Yongqian Shu, Xue Wu, Xiaoling Tong, Xiaonan Wang, Zhili Chang, Yu Mao, Xiaofeng Chen, Jing Sun, Zhenxin Wang, Zhuan Hong, Liangjun Zhu, Chunrong Zhu, Jun Chen, Ying Liang, Huawu Shao, Yang W. Shao
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/61fe10b0daf04456b58c5188a5068358
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spelling	oai:doaj.org-article:61fe10b0daf04456b58c5188a50683582021-12-02T15:06:00ZCirculating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types10.1038/s41598-017-00520-12045-2322https://doaj.org/article/61fe10b0daf04456b58c5188a50683582017-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-00520-1https://doaj.org/toc/2045-2322Abstract 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.Yongqian ShuXue WuXiaoling TongXiaonan WangZhili ChangYu MaoXiaofeng ChenJing SunZhenxin WangZhuan HongLiangjun ZhuChunrong ZhuJun ChenYing LiangHuawu ShaoYang W. ShaoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Yongqian Shu Xue Wu Xiaoling Tong Xiaonan Wang Zhili Chang Yu Mao Xiaofeng Chen Jing Sun Zhenxin Wang Zhuan Hong Liangjun Zhu Chunrong Zhu Jun Chen Ying Liang Huawu Shao Yang W. Shao Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types
description	Abstract 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.
format	article
author	Yongqian Shu Xue Wu Xiaoling Tong Xiaonan Wang Zhili Chang Yu Mao Xiaofeng Chen Jing Sun Zhenxin Wang Zhuan Hong Liangjun Zhu Chunrong Zhu Jun Chen Ying Liang Huawu Shao Yang W. Shao
author_facet	Yongqian Shu Xue Wu Xiaoling Tong Xiaonan Wang Zhili Chang Yu Mao Xiaofeng Chen Jing Sun Zhenxin Wang Zhuan Hong Liangjun Zhu Chunrong Zhu Jun Chen Ying Liang Huawu Shao Yang W. Shao
author_sort	Yongqian Shu
title	Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types
title_short	Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types
title_full	Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types
title_fullStr	Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types
title_full_unstemmed	Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types
title_sort	circulating tumor dna mutation profiling by targeted next generation sequencing provides guidance for personalized treatments in multiple cancer types
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/61fe10b0daf04456b58c5188a5068358
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Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types

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