CtDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.

ABSTRACT: A minimally invasive analysis of plasma cell-free DNA (cfDNA) offers a genomic profiling of early-stage breast cancer (EBC), potentially identifying mutational signatures linked to metastasis and therapy resistance. In this study, paired plasma and tissue samples from 40 hormone receptor-positive (HR+) EBC patients were sequenced using a custom-designed comprehensive gene panel, OncoIndx. The genomic landscape of circulating tumor DNA (ctDNA) showed a broader mutation spectrum compared to tumor tissue DNA (tDNA), and provided reliable assessments of microsatellite instability (MSI), tumor mutation burden (TMB), homologous recombination deficiency (HRD), and loss of heterogeneity (LOH), all indicating high genomic instability. Importantly, early detection of estrogen receptor α (ESR1

SUBMITTER: Bharde A 

PROVIDER: S-EPMC11863978 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature