Dynamic circulating tumor DNA profiling of ESR1 mutations in HR+/HER2- advanced breast cancer: from prognostic biomarker to clinical decision-making - a comprehensive review.

ABSTRACT:

Background

The combination of CDK4/6 inhibitors (CDK4/6i) and endocrine therapy (ET) is the standard first-line regimen for hormone receptor-positive, human epidermal growth factor receptor 2-negative (HR+/HER2-) metastatic breast cancer (MBC). Resistance remains a challenge, with estrogen receptor 1 gene (ESR1) mutations serving as a central mechanism. Liquid biopsy enables non-invasive monitoring via circulating tumor DNA (ctDNA), with ESR1 mutations increasingly recognized as dynamic molecular events rather than static markers.

Objective

This comprehensive review evaluates the prognostic and predictive value of baseline and on-treatment ctDNA ESR1 mutations in HR+/HER2- advanced breast cancer patients receiving CDK4/6i and ET, and explores their evolu

SUBMITTER: Ren S 

PROVIDER: S-EPMC13472803 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature