NDLI: Genome-wide cell-free DNA methylation analyses improve accuracy of non-invasive diagnostic imaging for early-stage breast cancer

Content Provider	Springer Nature : BioMed Central
Author	Liu, Jiaqi Zhao, Hengqiang Huang, Yukuan Xu, Shouping Zhou, Yan Zhang, Wei Li, Jiaqi Ming, Yue Wang, Xinyu Zhao, Sen Li, Kai Dong, Xiying Ma, Yunlong Qian, Tianyi Chen, Xinyi Xing, Zeyu Zhang, Yan Chen, Hongyan Liu, Zhihua Pang, Da Zhou, Meng Wu, Zhihong Wang, Xiaowo Wang, Xiang Wu, Nan Su, Jianzhong
Abstract	Early detection is crucial to improve breast cancer (BC) patients’ outcomes and survival. Mammogram and ultrasound adopting the Breast Imaging Reporting and Data System (BI-RADS) categorization are widely used for BC early detection, while suffering high false-positive rate leading to unnecessary biopsy, especially in BI-RADS category-4 patients. Plasma cell-free DNA (cfDNA) carrying on DNA methylation information has emerged as a non-invasive approach for cancer detection. Here we present a prospective multi-center study with whole-genome bisulfite sequencing data to address the clinical utility of cfDNA methylation markers from 203 female patients with breast lesions suspected for malignancy. The cfDNA is enriched with hypo-methylated genomic regions. A practical computational framework was devised to excavate optimal cfDNA-rich DNA methylation markers, which significantly improved the early diagnosis of BI-RADS category-4 patients (AUC from 0.78–0.79 to 0.93–0.94). As a proof-of-concept study, we performed the first blood-based whole-genome DNA methylation study for detecting early-stage breast cancer from benign tumors at single-base resolution, which suggests that combining the liquid biopsy with the traditional diagnostic imaging can improve the current clinical practice, by reducing the false-positive rate and avoiding unnecessary harms.
Related Links	https://molecular-cancer.biomedcentral.com/counter/pdf/10.1186/s12943-021-01330-w.pdf
Ending Page	7
Page Count	7
Starting Page	1
File Format	HTM / HTML
ISSN	14764598
DOI	10.1186/s12943-021-01330-w
Journal	Molecular Cancer
Issue Number	1
Volume Number	20
Language	English
Publisher	BioMed Central
Publisher Date	2021-02-19
Access Restriction	Open
Subject Keyword	Cancer Research Oncology
Content Type	Text
Subject	Oncology Molecular Medicine Cancer Research
Journal Impact Factor	27.7/2023
5-Year Journal Impact Factor	31.3/2023

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