Monitoring of gastrointestinal carcinoma via molecular residual disease with circulating tumor DNA using a tumor-informed assay.

ABSTRACT:

Background

Circulating tumor DNA (ctDNA)-based minimal residual disease (MRD) detection, which can identify disease relapse ahead of radiological imaging, has shown promising performance. The objective of this study was to develop and validate OriMIRACLE S (Minimal Residual Circulating Nucleic Acid Longitudinal Detection in Solid Tumor), a highly sensitive and specific tumor-informed assay for MRD detection.

Methods

Tumor-specific somatic single nucleotide variants (SNVs) were identified via whole exome sequencing of tumor tissue and matched germline DNA. Clonal SNVs were selected using the OriSelector algorithm for patient-specific, multiplex PCR-based NGS assays in MRD detection. Plasma-free DNA from patients with gastrointestinal tumors prior to and following an operation

SUBMITTER: Qi Z 

PROVIDER: S-EPMC10501225 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature