Standardized Analytical Verification of ctDNA ESR1 Mutation Testing in Metastatic HR+/HER2- Breast Cancer: A European Multicentre Study Using dPCR and NGS-Based Liquid Biopsy.

doi:10.1007/s40291-026-00850-9

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Standardized Analytical Verification of ctDNA ESR1 Mutation Testing in Metastatic HR+/HER2- Breast Cancer: A European Multicentre Study Using dPCR and NGS-Based Liquid Biopsy.

Molecular diagnosis & therapy - 1 Sept 2026

Rojo Federico, Guarneri Valentina, Fusco Nicola, Indraccolo Stefano, Vanden Bempt Isabelle, Rocco Elena Guerini, Sardinha Ruth, García-Murillas Isaac, Adorisio Riccardo, Boscolo Bragadin Andrea, Carvajal Nerea, Pepe Francesco, Pérez-Buira Sandra, Prieto-Potin Ivan, Renders Demi, Russo Gianluca, Scimone Claudia, Swift Claire, Venetis Konstantinos, Zazo Sandra, Malapelle Umberto

Abstract excerpt

INTRODUCTION: Activating ESR1 mutations are a major mechanism of resistance to aromatase inhibitors in hormone receptor-positive, HER2-negative metastatic breast cancer (mBC). International guidelines, including those from ASCO, NCCN, and ESMO, recommend liquid biopsy as the preferred approach for ESR1 mutation testing at progression on endocrine therapy, with digital PCR (dPCR) and next-generation sequencing...

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PMID: 42307899
DOI: 10.1007/s40291-026-00850-9
PMCID: PMC13499828

Genes

ESR1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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