Application of plasma cell-free DNA in screening of advanced colorectal adenoma

Sep 23, 2026

Uploaded by Noah

Advanced colorectal adenoma is a key precursor to colorectal carcinoma, yet colonoscopy is invasive and uncomfortable, reducing uptake and delaying detection of early lesions. This review examines cell-free DNA (cfDNA), a minimally invasive “liquid biopsy” approach, as a non-invasive screening strategy for high-risk populations. It summarizes cfDNA research progress across molecular size, end signatures, nucleosomal footprints, topology, methylation, and integrity, linking biological characteristics to screening utility.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages7

Reading Time18 min

AccessFree to download

Background

Need for non-invasive screening

Review Scope

Biological characteristics of cfDNA

Conclusions

Chen et al. European Journal European Journal of Medical Research (2025) 30:136 [https://doi.org/10.1186/s40001-025-02313-z](https://doi.org/10.1186/s40001-025-02313-z of Medical Research)[ of Medical Research](https://doi.org/10.1186/s40001-025-02313-z of Medical Research) REVIEW Open Access Application of plasma cell-free DNA in screening of advanced colorectal adenoma Bing-Hong Chen1,2, Hoi-Ioi Ng1*, Yong Liu1, Wei Zhang2 and Gui-Qi Wang1 Abstract Background Currently, due to the invasive nature of colonoscopy and the associated pain, people avoid undergoing the procedure, making it difficult to detect the majority of potential early stage colorectal carcinoma/precancerous lesions or advanced adenoma. Advanced colorectal adenoma is the main precursor to the development of colorectal carcinoma. Therefore, improving advanced colorectal adenoma detection rate can significantly decrease the development and morbidity of colorectal carcinoma. Accordingly, a non-invasive method to screen high-risk people for colonoscopy in clinical practice is urgently needed. Main text With the development of medical technology, screening methods for colorectal carcinoma are emerging rapidly, and diverse non-invasive methods are being developed. Cell-free DNA (cfDNA), commonly referred to as liquid biopsy, has promising application prospects as a minimally invasive strategy for early screening of colorectal cancer. CfDNA has already been applied in the field of prenatal diagnosis, advanced carcinoma, and organ transplantation, and the application cfDNA in advanced colorectal adenoma is at the cutting-edge of current research. Thus, this review summarizes the progress in research on different biological characteristics of cfDNA and its utility in the screening of advanced colorectal adenoma, including sizes of cfDNA molecules, end signature of cfDNA (preferred ends, end motifs, jagged ends), nucleosomal footprints, cfDNA topology, cfDNA methylation, and cfDNA integrity. Conclusions We hope that this review will advance this promising research field. Keywords Advanced colorectal carcinoma, Cell-free DNA, Non-invasive screening, Liquid biopsy, Biological characteristics Background Colorectal cancer (CRC) is a common malignant cancer. According to the latest statistics from the American Cancer Society for 2023, the incidence and mortality *Correspondence: Hoi-Ioi Ng 1581 [1329134@139.com](1329134@139.com) 1 Department of Endoscopy, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China 2 Department of Endoscopy, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital & Shenzhen Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen 518116, China rates of CRC among men and women remain the third highest among those of all cancers [1] . Owing to the growing awareness about a healthy lifestyle, advancements in early diagnosis and treatment of CRC, and improvements in treatment methods, the mortality rate of CRC has been decreasing annually [2] . The early diagnosis and treatment of CRC have been the focus of extensive research. Colorectal cancer develops relatively slowly, and the process of developing from polyp to cancer usually takes 5–10 years or even longer (Fig. 1), in which the timely detection and treatment of advanced adenomas, which are now known as precancerous lesions, can effectively reduce the incidence rate of and mortality associated with CRC [3] . Up to now, © The Author(s) 2025. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative C

FAQs

Why is there a need for non-invasive screening for advanced colorectal adenoma?

Colonoscopy is invasive and can be painful, leading people to avoid it and making it harder to detect early colorectal carcinoma or precancerous lesions. Since advanced adenoma is a main precursor, improving detection can reduce CRC development and morbidity.

What is the role of cell-free DNA (cfDNA) in this screening approach?

cfDNA, commonly used in liquid biopsy, circulates freely in blood and can come from tumor-related sources. The review focuses on how cfDNA can support early screening for high-risk individuals.

Which biological characteristics of cfDNA are discussed as screening utilities?

The review summarizes research on cfDNA molecular sizes, end signatures, nucleosomal footprints, cfDNA topology, cfDNA methylation, and cfDNA integrity, and how these features may inform screening of advanced colorectal adenoma.

Sep 23, 2026

Uploaded by Noah