Concordance of Genomic Alterations in Ovarian Cancer Tissues and Circulating-Tumor DNA: A Pilot Study.

ABSTRACT: High-grade serous ovarian carcinoma (HGSOC) is characterized by profound genomic instability and spatial heterogeneity. Liquid biopsy, utilizing circulating tumor DNA (ctDNA), offers a non-invasive approach to capture the comprehensive mutational landscape of the disease. This pilot study evaluated the concordance of genomic alterations between cell-free DNA (cfDNA) and matched tumor tissue in patients with HGSOC. Twelve patients with HGSOC undergoing primary cytoreductive surgery were enrolled. Using the Macrogen^® Axen™ Cancer Panel 2 with unique molecular identifier (UMI) technology for error suppression, we achieved a theoretical limit of detection of ~0.36% VAF. The mean cfDNA concentration was 107.3 ng/mL, showing a significant positive correlation with FIGO stage (p

SUBMITTER: Kang B 

PROVIDER: S-EPMC12897642 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature