Fragment Enrichment of Circulating Tumor DNA With Low-Frequency Mutations

Human blood contains cell-free DNA (cfDNA), with circulating tumor-derived DNAs (ctDNAs) widely used in cancer diagnosis and treatment. However, it is still difficult to efficiently and accurately identify and distinguish specific ctDNAs from normal cfDNA in cancer patient blood samples. In this stu...

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Main Authors: Xiaojun Liu, Jidong Lang, Shijun Li, Yuehua Wang, Lihong Peng, Weitao Wang, Yingmin Han, Cuixiao Qi, Lei Song, Shuangshuang Yang, Kaixin Zhang, Guoliang Zang, Hong Pei, Qingqing Lu, Yonggang Peng, Shuxue Xi, Weiwei Wang, Dawei Yuan, Pingping Bing, Liqian Zhou, Geng Tian
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00147/full
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author Xiaojun Liu
Jidong Lang
Shijun Li
Yuehua Wang
Lihong Peng
Weitao Wang
Yingmin Han
Cuixiao Qi
Lei Song
Shuangshuang Yang
Kaixin Zhang
Guoliang Zang
Hong Pei
Qingqing Lu
Yonggang Peng
Shuxue Xi
Weiwei Wang
Dawei Yuan
Pingping Bing
Liqian Zhou
Geng Tian
Geng Tian
author_facet Xiaojun Liu
Jidong Lang
Shijun Li
Yuehua Wang
Lihong Peng
Weitao Wang
Yingmin Han
Cuixiao Qi
Lei Song
Shuangshuang Yang
Kaixin Zhang
Guoliang Zang
Hong Pei
Qingqing Lu
Yonggang Peng
Shuxue Xi
Weiwei Wang
Dawei Yuan
Pingping Bing
Liqian Zhou
Geng Tian
Geng Tian
author_sort Xiaojun Liu
collection DOAJ
description Human blood contains cell-free DNA (cfDNA), with circulating tumor-derived DNAs (ctDNAs) widely used in cancer diagnosis and treatment. However, it is still difficult to efficiently and accurately identify and distinguish specific ctDNAs from normal cfDNA in cancer patient blood samples. In this study, ctDNA fragment length distribution analysis showed that ctDNA fragments are frequently shorter than the normal cfDNAs, which is consistent with previous findings. Interestingly, the ctDNA fragment length was found to be partially associated with the mutant allele frequency, with a low mutant allele frequency (< ~0.6%) associated with a longer ctDNA fragment length when compared to normal cfDNAs. The findings of this study contribute to improving the detection of low-frequency tumor mutations.
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spelling doaj.art-0c7de90d34fa416e9c07b2dafd9517f02022-12-21T17:50:14ZengFrontiers Media S.A.Frontiers in Genetics1664-80212020-02-011110.3389/fgene.2020.00147515133Fragment Enrichment of Circulating Tumor DNA With Low-Frequency MutationsXiaojun Liu0Jidong Lang1Shijun Li2Yuehua Wang3Lihong Peng4Weitao Wang5Yingmin Han6Cuixiao Qi7Lei Song8Shuangshuang Yang9Kaixin Zhang10Guoliang Zang11Hong Pei12Qingqing Lu13Yonggang Peng14Shuxue Xi15Weiwei Wang16Dawei Yuan17Pingping Bing18Liqian Zhou19Geng Tian20Geng Tian21School of Computer Science, Hunan University of Technology, Zhuzhou, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaDepartment of Pathology, Chifeng Municipal Hospital, Chifeng, ChinaDepartment of Pathology, Chifeng Municipal Hospital, Chifeng, ChinaSchool of Computer Science, Hunan University of Technology, Zhuzhou, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaAcademics Working Station, Changsha Medical University, Changsha, ChinaSchool of Computer Science, Hunan University of Technology, Zhuzhou, ChinaSchool of Computer Science, Hunan University of Technology, Zhuzhou, ChinaBioinformatics Department, Geneis (Beijing) Co. Ltd., Beijing, ChinaHuman blood contains cell-free DNA (cfDNA), with circulating tumor-derived DNAs (ctDNAs) widely used in cancer diagnosis and treatment. However, it is still difficult to efficiently and accurately identify and distinguish specific ctDNAs from normal cfDNA in cancer patient blood samples. In this study, ctDNA fragment length distribution analysis showed that ctDNA fragments are frequently shorter than the normal cfDNAs, which is consistent with previous findings. Interestingly, the ctDNA fragment length was found to be partially associated with the mutant allele frequency, with a low mutant allele frequency (< ~0.6%) associated with a longer ctDNA fragment length when compared to normal cfDNAs. The findings of this study contribute to improving the detection of low-frequency tumor mutations.https://www.frontiersin.org/article/10.3389/fgene.2020.00147/fulllow-frequency tumor mutationcell-free DNAcirculating tumor-derived DNAfragment length enrichmentmutant allele frequencynext generation sequencing
spellingShingle Xiaojun Liu
Jidong Lang
Shijun Li
Yuehua Wang
Lihong Peng
Weitao Wang
Yingmin Han
Cuixiao Qi
Lei Song
Shuangshuang Yang
Kaixin Zhang
Guoliang Zang
Hong Pei
Qingqing Lu
Yonggang Peng
Shuxue Xi
Weiwei Wang
Dawei Yuan
Pingping Bing
Liqian Zhou
Geng Tian
Geng Tian
Fragment Enrichment of Circulating Tumor DNA With Low-Frequency Mutations
Frontiers in Genetics
low-frequency tumor mutation
cell-free DNA
circulating tumor-derived DNA
fragment length enrichment
mutant allele frequency
next generation sequencing
title Fragment Enrichment of Circulating Tumor DNA With Low-Frequency Mutations
title_full Fragment Enrichment of Circulating Tumor DNA With Low-Frequency Mutations
title_fullStr Fragment Enrichment of Circulating Tumor DNA With Low-Frequency Mutations
title_full_unstemmed Fragment Enrichment of Circulating Tumor DNA With Low-Frequency Mutations
title_short Fragment Enrichment of Circulating Tumor DNA With Low-Frequency Mutations
title_sort fragment enrichment of circulating tumor dna with low frequency mutations
topic low-frequency tumor mutation
cell-free DNA
circulating tumor-derived DNA
fragment length enrichment
mutant allele frequency
next generation sequencing
url https://www.frontiersin.org/article/10.3389/fgene.2020.00147/full
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