Liquid Biopsy Meets Mutational Signatures: A Framework for Longitudinal Cancer Monitoring
This review proposes integrating liquid biopsy with mutational signature analysis to track tumour-specific mutational processes longitudinally from blood samples. The approach could enhance cancer screening by detecting signature patterns before clinical diagnosis, refine tumour classification, and guide personalised therapy selection based on active mutational mechanisms. The framework addresses key limitations of current precision oncology, including genetic heterogeneity and the absence of actionable alterations in some cancers.
The original study
Integrating liquid biopsy and mutational signatures to advance precision oncology.
- Authors
- Carrasco R, Dreij K
- Journal
- NPJ precision oncology
- Type
- Journal Article, Review
- PMID
- 41731148
Original abstract
The effective application of precision oncology in solid tumors remains challenging due to genetic heterogeneity and the absence of actionable alterations in some cancers. In this review, we discuss the integration of liquid biopsy and mutational signatures as a potential framework to address these limitations by enabling longitudinal detection of mutational processes that arise during tumor development and evolution. Together, these complementary approaches hold substantial promise for enhancing cancer screening, refining diagnosis, and guiding personalized therapeutic strategies, thereby advancing the field of precision oncology.