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Parameter
Biomarker ESR1 Full name Estrogen receptor 1 Molecular Type Nucleic acid
Molecular Formula / Molecular Weight / Core Functional Dimensions Prognosis
Disease Breast Cancer Disease Subtypes /
Organ Breast Test Sample / Technology Platform Tumor / circulating DNA (ctDNA) (Next Generation Sequencing)
Pathobiological Mechanisms ESR1 gene mutations (such as Y537S, D538G) can cause continuous activation of ER, independent of estrogen, and are an important cause of resistance to endocrine therapy.
Clinical Availability Status Clinical validation / Partial application: The detection of ESR1 mutations using ctDNA has been applied in the treatment decisions for patients with late endocrine resistance.
Notes and Dynamics ESR1 mutation detection is being extended to early-stage patients to explore risk stratification for drug resistance; liquid biopsy (ctDNA) can dynamically monitor the mutation status.

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This study was supported by the Scientific Research Innovation Capability Support Project for Young Faculty (SRICSPYF-ZY2025112), the Fundamental and Interdisciplinary Disciplines Breakthrough Plan of the Ministry of Education of China (JYB2025XDXM612)

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