Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes.

Genome alteration signatures reflect recurring patterns caused by distinct endogenous or exogenous mutational events during the evolution of cancer. Signatures of single base substitution (SBS) have been extensively studied in different types of cancer. Copy number alterations are important drivers...

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Main Authors: Shixiang Wang, Huimin Li, Minfang Song, Ziyu Tao, Tao Wu, Zaoke He, Xiangyu Zhao, Kai Wu, Xue-Song Liu
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-05-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009557&type=printable
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author Shixiang Wang
Huimin Li
Minfang Song
Ziyu Tao
Tao Wu
Zaoke He
Xiangyu Zhao
Kai Wu
Xue-Song Liu
author_facet Shixiang Wang
Huimin Li
Minfang Song
Ziyu Tao
Tao Wu
Zaoke He
Xiangyu Zhao
Kai Wu
Xue-Song Liu
author_sort Shixiang Wang
collection DOAJ
description Genome alteration signatures reflect recurring patterns caused by distinct endogenous or exogenous mutational events during the evolution of cancer. Signatures of single base substitution (SBS) have been extensively studied in different types of cancer. Copy number alterations are important drivers for the progression of multiple cancer. However, practical tools for studying the signatures of copy number alterations are still lacking. Here, a user-friendly open source bioinformatics tool "sigminer" has been constructed for copy number signature extraction, analysis and visualization. This tool has been applied in prostate cancer (PC), which is particularly driven by complex genome alterations. Five copy number signatures are identified from human PC genome with this tool. The underlying mutational processes for each copy number signature have been illustrated. Sample clustering based on copy number signature exposure reveals considerable heterogeneity of PC, and copy number signatures show improved PC clinical outcome association when compared with SBS signatures. This copy number signature analysis in PC provides distinct insight into the etiology of PC, and potential biomarkers for PC stratification and prognosis.
format Article
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language English
publishDate 2021-05-01
publisher Public Library of Science (PLoS)
record_format Article
series PLoS Genetics
spelling doaj-art-1e78079d509c4c58b50c697b1489ca602025-08-20T02:17:49ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042021-05-01175e100955710.1371/journal.pgen.1009557Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes.Shixiang WangHuimin LiMinfang SongZiyu TaoTao WuZaoke HeXiangyu ZhaoKai WuXue-Song LiuGenome alteration signatures reflect recurring patterns caused by distinct endogenous or exogenous mutational events during the evolution of cancer. Signatures of single base substitution (SBS) have been extensively studied in different types of cancer. Copy number alterations are important drivers for the progression of multiple cancer. However, practical tools for studying the signatures of copy number alterations are still lacking. Here, a user-friendly open source bioinformatics tool "sigminer" has been constructed for copy number signature extraction, analysis and visualization. This tool has been applied in prostate cancer (PC), which is particularly driven by complex genome alterations. Five copy number signatures are identified from human PC genome with this tool. The underlying mutational processes for each copy number signature have been illustrated. Sample clustering based on copy number signature exposure reveals considerable heterogeneity of PC, and copy number signatures show improved PC clinical outcome association when compared with SBS signatures. This copy number signature analysis in PC provides distinct insight into the etiology of PC, and potential biomarkers for PC stratification and prognosis.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009557&type=printable
spellingShingle Shixiang Wang
Huimin Li
Minfang Song
Ziyu Tao
Tao Wu
Zaoke He
Xiangyu Zhao
Kai Wu
Xue-Song Liu
Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes.
PLoS Genetics
title Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes.
title_full Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes.
title_fullStr Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes.
title_full_unstemmed Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes.
title_short Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes.
title_sort copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes
url https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009557&type=printable
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