Characterization of Plasma Cell-Free DNA Variants as of Tumor or Clonal Hematopoiesis Origin in 16,812 Advanced Cancer Patients.

ABSTRACT:

Purpose

Plasma-based liquid biopsy tests can detect tumor-specific genetic alterations and offer many advantages that complement tissue-based comprehensive genomic profiling. However, age-related clonal hematopoiesis (CH) mutations can confound liquid biopsy results and potentially lead to incorrect therapy choice.

Experimental design

We assessed the landscape of 16,812 liquid profiles across 49 cancer types using the Caris Assure assay, a whole-exome and whole-transcriptome next-generation sequencing workflow that independently sequences both plasma-derived cell-free total nucleic acids and the white blood cell DNA and RNA from the buffy coat. The variant source was identified algorithmically by comparing plasma and buffy coat variant frequency and read quality metrics.

SUBMITTER: Magee D 

PROVIDER: S-EPMC12209822 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature