Predicting treatment resistance and relapse through circulating DNA.

Area of Science:

• Oncology
• Genomics
• Molecular Diagnostics

Background:

• Circulating tumor DNA (ctDNA) analysis is a rapidly advancing field in oncology.
• ctDNA provides a non-invasive method for personalized genomic profiling of tumors.
• Recent studies highlight ctDNA's potential in both early and metastatic breast cancer management.

Purpose of the Study:

• To review technological advancements in ctDNA analysis for breast cancer.
• To discuss the role of ctDNA in early relapse detection and monitoring micrometastatic disease.
• To explore how ctDNA can predict treatment response and resistance.

Main Methods:

• Review of recent studies utilizing ctDNA analysis in breast cancer.
• Focus on technologies like whole exome sequencing, shallow whole genome sequencing, and digital PCR.
• Analysis of liquid biopsy approaches for detecting specific mutations (e.g., ESR1, PIK3CA) and biomarkers (exosomal miRNA, hypermethylated DNA).

Main Results:

• ctDNA can predict prognosis and treatment response in metastatic breast cancer.
• Advanced sequencing methods identify new mutations associated with treatment resistance.
• Personalized digital PCR probes show promise in predicting relapse and detecting minimal residual disease in early breast cancer.
• Liquid biopsies can monitor resistance pathways and identify patients eligible for specific therapies.

Conclusions:

• ctDNA analysis represents a significant advancement in personalized breast cancer care.
• Technological progress enables earlier detection, better treatment selection, and monitoring of resistance.
• Liquid biopsy approaches hold promise for improving patient outcomes through non-invasive genomic monitoring.