Comparative Performance of a Targeted Next-Generation Sequencing Assay Against Multiplexed Digital PCR Assays in Detecting ERBB2, ESR1, and PIK3CA Mutations in Plasma Circulating Cell-Free DNA from Liquid Biopsies.

doi:10.1016/j.jmoldx.2025.08.012

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Comparative Performance of a Targeted Next-Generation Sequencing Assay Against Multiplexed Digital PCR Assays in Detecting ERBB2, ESR1, and PIK3CA Mutations in Plasma Circulating Cell-Free DNA from Liquid Biopsies.

The Journal of molecular diagnostics : JMD - 1 Dec 2025

Corné Julien, Godey Florence, Legros Angelina, Castéra Laurent, Krieger Sophie, Chérel Mathilde, Cochet Agathe, Le Du Fanny, Bourien Héloïse, Deleuze Antoine, Crouzet Laurence, Perrin Christophe, Lefeuvre-Plesse Claudia, Diéras Véronique, De la Motte Rouge Thibault

Abstract excerpt

Analyzing somatic mutations in liquid biopsies poses a real challenge in treating patients with breast cancer. Because of the high sensitivity required to detect circulating tumor DNA, which may be present at low levels, digital PCR analysis seems highly appropriate. However, new targeted next-generation sequencing solutions are now available, enabling highly sensitive multigene analysis that could benefit...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41072730
DOI: 10.1016/j.jmoldx.2025.08.012

Genes

ESR1
PIK3CA
ERBB2

Variants

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