Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals

Abstract Cell-free DNA (cfDNA) in plasma has emerged as a potential important biomarker in clinical diagnostics, particularly in cancer. However, somatic mutations are also commonly found in healthy individuals, which interfere with the effectiveness for cancer diagnostics. This study examined the b...

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Autores principales:	Ligang Xia, Zhoufang Li, Bo Zhou, Geng Tian, Lidong Zeng, Hongyu Dai, Xiaohua Li, Chaoyu Liu, Shixin Lu, Feiyue Xu, Xiaonian Tu, Fang Deng, Yuancai Xie, Weiren Huang, Jiankui He
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/72223ec9b9014ea794371c47787bfe64
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spelling	oai:doaj.org-article:72223ec9b9014ea794371c47787bfe642021-12-02T11:40:44ZStatistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals10.1038/s41598-017-06106-12045-2322https://doaj.org/article/72223ec9b9014ea794371c47787bfe642017-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-06106-1https://doaj.org/toc/2045-2322Abstract Cell-free DNA (cfDNA) in plasma has emerged as a potential important biomarker in clinical diagnostics, particularly in cancer. However, somatic mutations are also commonly found in healthy individuals, which interfere with the effectiveness for cancer diagnostics. This study examined the background somatic mutations in white blood cells (WBC) and cfDNA in healthy controls based on sequencing data from 821 non-cancer individuals and several cancer samples with the aim of understanding the patterns of mutations detected in cfDNA. We determined the mutation allele frequencies in both WBC and cfDNA using a panel of 50 cancer-associated genes that covers 20 K-nucleotide region and ultra-deep sequencing with average depth >40000-fold. Our results showed that most of the mutations in cfDNA were highly correlated to WBC. We also observed that the NPM1 gene was the most frequently mutated gene in both WBC and cfDNA. Our study highlighted the importance of sequencing both cfDNA and WBC to improve the sensitivity and accuracy for calling cancer-related mutations from circulating tumour DNA, and shedded light on developing a strategy for early cancer diagnosis by cfDNA sequencing.Ligang XiaZhoufang LiBo ZhouGeng TianLidong ZengHongyu DaiXiaohua LiChaoyu LiuShixin LuFeiyue XuXiaonian TuFang DengYuancai XieWeiren HuangJiankui HeNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Ligang Xia Zhoufang Li Bo Zhou Geng Tian Lidong Zeng Hongyu Dai Xiaohua Li Chaoyu Liu Shixin Lu Feiyue Xu Xiaonian Tu Fang Deng Yuancai Xie Weiren Huang Jiankui He Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals
description	Abstract Cell-free DNA (cfDNA) in plasma has emerged as a potential important biomarker in clinical diagnostics, particularly in cancer. However, somatic mutations are also commonly found in healthy individuals, which interfere with the effectiveness for cancer diagnostics. This study examined the background somatic mutations in white blood cells (WBC) and cfDNA in healthy controls based on sequencing data from 821 non-cancer individuals and several cancer samples with the aim of understanding the patterns of mutations detected in cfDNA. We determined the mutation allele frequencies in both WBC and cfDNA using a panel of 50 cancer-associated genes that covers 20 K-nucleotide region and ultra-deep sequencing with average depth >40000-fold. Our results showed that most of the mutations in cfDNA were highly correlated to WBC. We also observed that the NPM1 gene was the most frequently mutated gene in both WBC and cfDNA. Our study highlighted the importance of sequencing both cfDNA and WBC to improve the sensitivity and accuracy for calling cancer-related mutations from circulating tumour DNA, and shedded light on developing a strategy for early cancer diagnosis by cfDNA sequencing.
format	article
author	Ligang Xia Zhoufang Li Bo Zhou Geng Tian Lidong Zeng Hongyu Dai Xiaohua Li Chaoyu Liu Shixin Lu Feiyue Xu Xiaonian Tu Fang Deng Yuancai Xie Weiren Huang Jiankui He
author_facet	Ligang Xia Zhoufang Li Bo Zhou Geng Tian Lidong Zeng Hongyu Dai Xiaohua Li Chaoyu Liu Shixin Lu Feiyue Xu Xiaonian Tu Fang Deng Yuancai Xie Weiren Huang Jiankui He
author_sort	Ligang Xia
title	Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals
title_short	Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals
title_full	Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals
title_fullStr	Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals
title_full_unstemmed	Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals
title_sort	statistical analysis of mutant allele frequency level of circulating cell-free dna and blood cells in healthy individuals
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/72223ec9b9014ea794371c47787bfe64
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Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals

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