Nadire Aishan, Siwei Ju, Zhongqiu Zheng, Yongxia Chen, Qingna Meng, Qina He, Jiahang Zhang, Jiaheng Lang, Bojian Xie, Lidan Jin, Jun Shen, Yi Lu, Yangjun Cai, Feiyang Ji, Feilin Cao, Linbo Wang
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5-Hydroxymethylcytosine signatures in circulating cell-free DNA as potential diagnostic markers for breast cancer.
Aims: Breast cancer is one of the most prevalent cancers among women, and early diagnosis is crucial in reducing the mortality rate. This study aims to identify novel, reliable, and specific biomarkers for breast cancer diagnosis using 5-Hydroxymethylcytosine (5hmC) signatures in circulating cell-free DNA (cfDNA).
Materials and methods: We utilized the sensitive 5hmC seal method to map 5hmC profiles in cfDNA samples from 203 breast cancer patients and 60 healthy individuals. Machine learning models were applied to identify 5hmC marker signatures with high sensitivity and specificity.
Results: A global loss of 5hmC was observed in the blood samples from cancer patients compared to the control group. Several specific 5hmC marker signatures were identified, providing a basis for distinguishing between tumor and healthy individuals.
Conclusions: Our study offers a comprehensive understanding of genome-wide 5hmC in cfDNA from breast cancer patients, and identifies valuable epigenetic biomarkers for the minimally invasive diagnosis of breast cancer.
期刊介绍：
Biomarkers are physical, functional or biochemical indicators of physiological or disease processes. These key indicators can provide vital information in determining disease prognosis, in predicting of response to therapies, adverse events and drug interactions, and in establishing baseline risk. The explosion of interest in biomarker research is driving the development of new predictive, diagnostic and prognostic products in modern medical practice, and biomarkers are also playing an increasingly important role in the discovery and development of new drugs. For the full utility of biomarkers to be realized, we require greater understanding of disease mechanisms, and the interplay between disease mechanisms, therapeutic interventions and the proposed biomarkers. However, in attempting to evaluate the pros and cons of biomarkers systematically, we are moving into new, challenging territory.
Biomarkers in Medicine (ISSN 1752-0363) is a peer-reviewed, rapid publication journal delivering commentary and analysis on the advances in our understanding of biomarkers and their potential and actual applications in medicine. The journal facilitates translation of our research knowledge into the clinic to increase the effectiveness of medical practice.
As the scientific rationale and regulatory acceptance for biomarkers in medicine and in drug development become more fully established, Biomarkers in Medicine provides the platform for all players in this increasingly vital area to communicate and debate all issues relating to the potential utility and applications.
Each issue includes a diversity of content to provide rounded coverage for the research professional. Articles include Guest Editorials, Interviews, Reviews, Research Articles, Perspectives, Priority Paper Evaluations, Special Reports, Case Reports, Conference Reports and Company Profiles. Review coverage is divided into themed sections according to area of therapeutic utility with some issues including themed sections on an area of topical interest.
Biomarkers in Medicine provides a platform for commentary and debate for all professionals with an interest in the identification of biomarkers, elucidation of their role and formalization and approval of their application in modern medicine. The audience for Biomarkers in Medicine includes academic and industrial researchers, clinicians, pathologists, clinical chemists and regulatory professionals.
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