南方科技大学知识苑(SUSTech KC): Early detection and stratification of colorectal cancer using plasma cell-free DNA fragmentomic profiling

题名	Early detection and stratification of colorectal cancer using plasma cell-free DNA fragmentomic profiling
作者	Zhou，Jiyuan 1; Pan，Yuanke 2; Wang，Shubing 3; Wang，Guoqiang 4; Gu，Chengxin 1; Zhu，Jinxin 2; Tan，Zhenlin 1; Wu，Qixian 1; He，Weihuang 5; Lin，Xiaohui 6; Xu，Shu 7; Yuan，Kehua 8; Zheng，Ziwen 1; Gong，Xiaoqing 1; JiangHe，Chenhao 1; Han，Zhoujian 1; Huang，Bingding 2; Ruan，Ruyun 2; Feng，Mingji 5; Cui，Pin 5; Yang，Hui 1
通讯作者	Yang，Hui
发表日期	2024-07-01
DOI	10.1016/j.ygeno.2024.110876
发表期刊	Genomics 影响因子和分区
ISSN	0888-7543
EISSN	1089-8646
卷号	116 期号:4
摘要	Timely accurate and cost-efficient detection of colorectal cancer (CRC) is of great clinical importance. This study aims to establish prediction models for detecting CRC using plasma cell-free DNA (cfDNA) fragmentomic features. Whole-genome sequencing (WGS) was performed on cfDNA from 620 participants, including healthy individuals, patients with benign colorectal diseases and CRC patients. Using WGS data, three machine learning methods were compared to build prediction models for the stratification of CRC patients. The optimal model to discriminate CRC patients of all stages from healthy individuals achieved a sensitivity of 92.31% and a specificity of 91.14%, while the model to separate early-stage CRC patients (stage 0-II) from healthy individuals achieved a sensitivity of 88.8% and a specificity of 96.2%. Additionally, the cfDNA fragmentation profiles reflected disease-specific genomic alterations in CRC. Overall, this study suggests that cfDNA fragmentation profiles may potentially become a noninvasive approach for the detection and stratification of CRC.
关键词	Cell-free DNA Colorectal cancer Fragmentation profile Machine learning
相关链接	[Scopus记录]
收录类别	SCI
语种	英语
学校署名	其他
ESI学科分类	MOLECULAR BIOLOGY & GENETICS
Scopus记录号	2-s2.0-85195313099
来源库	Scopus
引用统计
成果类型	期刊论文
条目标识符	http://sustech.caswiz.com/handle/2SGJ60CL/778659
专题	南方科技大学
作者单位	1.Department of Gastroenterology,the Second Affiliated Hospital of Guangzhou Medical University,Guangzhou,China 2.College of Big Data and Internet,Shenzhen Technology University,Shenzhen,China 3.Department of Oncology,Shenzhen Key Laboratory of Gastrointestinal Cancer Translational Research,Cancer Institute,Peking University Shenzhen Hospital,Shenzhen-Peking University-Hong Kong University of Science and Technology Medical Center,Shenzhen,China 4.Department of Gastrointestinal Surgery,the Second Affiliated Hospital of Guangzhou Medical University,Guangzhou,China 5.Shenzhen Rapha Biotechnology Incorporate,Shenzhen,China 6.Department of Oncology,People's Hospital of Shenzhen Baoan District,The Second Affiliated Hospital of Shenzhen University,Shenzhen,China 7.Department of Oncology,Shenzhen Hospital,University of Chinese Academy of Sciences,Shenzhen,Guangdong,China 8.Department of Oncology,Yantian Hospital,South University of Science and Technology,Shenzhen,Guangdong,China
推荐引用方式 GB/T 7714	Zhou，Jiyuan,Pan，Yuanke,Wang，Shubing,et al. Early detection and stratification of colorectal cancer using plasma cell-free DNA fragmentomic profiling[J]. Genomics,2024,116(4).
APA	Zhou，Jiyuan.,Pan，Yuanke.,Wang，Shubing.,Wang，Guoqiang.,Gu，Chengxin.,...&Yang，Hui.(2024).Early detection and stratification of colorectal cancer using plasma cell-free DNA fragmentomic profiling.Genomics,116(4).
MLA	Zhou，Jiyuan,et al."Early detection and stratification of colorectal cancer using plasma cell-free DNA fragmentomic profiling".Genomics 116.4(2024).