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A single droplet digital PCR for ESR1 activating mutations detection in plasma.

Oncogene - 1 Apr 2020

Jeannot Emmanuelle, Darrigues Lauren, Michel Marc, Stern Marc-Henri, Pierga Jean-Yves, Rampanou Aurore, Melaabi Samia, Benoist Camille, Bièche Ivan, Vincent-Salomon Anne, El Ayachy Radouane, Noret Aurélien, Epaillard Nicolas, Cabel Luc, Bidard François-Clément, Proudhon Charlotte

Abstract excerpt

Activating mutations in the estrogen receptor 1 (ESR1) gene confer resistance to aromatase inhibitors (AI), and may be targeted by selective estrogen receptor downregulators. We designed a multiplex droplet digital PCR (ddPCR), which combines a drop-off assay, targeting the clustered hotspot mutations found in exon 8, with an unconventional assay interrogating the E380Q mutation in exon 5. We assessed its...

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PMID: 32042112
DOI: 10.1038/s41388-020-1174-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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