A recent study published in Clinical Cancer Research (Jan 9, 2025) highlights the potential of structural variant (SV)-based circulating tumor DNA (ctDNA) detection in early-stage breast cancer (EBC). Unlike traditional approaches focusing on single nucleotide variants (SNVs), SVs provide a tumor-informed method that enhances sensitivity while maintaining specificity.
Key findings:
ctDNA was detected in 96% of baseline samples, with a median variant allele frequency of 0.15%.
Early ctDNA detection at cycle 2 of neoadjuvant therapy correlated with distant recurrence risk and residual cancer burden.
100% of distant recurrences were preceded by ctDNA detection, with a median lead time of 417 days—offering a crucial window for potential intervention.
These results underscore the clinical validity of ultrasensitive ctDNA detection using structural variants, paving the way for prospective trials on ctDNA-guided treatment strategies.
Congratulations to the entire team for this important contribution to breast cancer research and precision oncology.
Full study: https://lnkd.in/encHYDya
