Cell-free DNA-associated multi-feature applications in cancer diagnosis and treatment

Abstract

Malignant tumours pose significant challenges in terms of high morbidity and mortality rates, primarily due to the lack of large-scale applicable screening methods and efficient treatment strategies. However, the development of liquid biopsies, particularly circulating cell-free DNA (cfDNA), offers promising solutions characterised by their non-invasiveness and cost-effectiveness, providing comprehensive tumour information on a global scale. The release of cfDNA is predominantly associated with cell death and turnover, while its elimination occurs through nuclease digestion, renal excretion into the urine and uptake by the liver and spleen. Extensive research into the biological properties of cfDNA has led to the identification of novel applications, including non-invasive cancer screening, cancer subtype classification, tissue-of-origin detection and monitoring of treatment efficacy. Additionally, emerging fields such as methylation-omics, fragment-omics and nucleosome-omics show immense potential as tissue- and disease-specific markers. Therefore, this review aims to comprehensively introduce the latest detection techniques of cfDNA, along with detailed information on its characteristics and applications, providing valuable insights for cancer diagnosis and monitoring, which will assist us in purposefully enhancing relevant features for a more comprehensive application in clinical practice.