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Paired Tissue and ctDNA Profiling Reveals Novel ESR1 Amplifications CDK4/6 Resistance Mechanisms in HR+/HER2– Metastatic Breast Cancers
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DOI：10.1016/j.labinv.2026.106135.png)
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Abstract
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With the availability of new treatment options such as selective estrogen receptor degraders (SERDs), CDK4/6 inhibitors (CDK4/6i), and PIK3CA inhibitors for hormone receptor–positive (HR+)/HER2– advanced and metastatic breast cancers (BC), the identification of ESR1, PIK3CA, and biomarkers associated with CDK4/6i resistance has become increasingly critical. Liquid biopsy has emerged as a convenient and valuable tool for molecular profiling and disease monitoring. In this study, we evaluate the real-world genomic profiling in both tumor and liquid biopsy to determine how the complementary use of both specimen types optimizes the identification of the resistance biomarkers.
Keywords:
HR+/HER2-
metastatic breast cancer
CDK4/6 inhibitors
circulating tumor DNA
ESR1
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