ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2018
Estrogen receptor (ESR1) mutation in bone metastases from breast cancer.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 36 citations in OpenAlex.
- A predictive endocrine resistance index accurately stratifies luminal breast cancer treatment responders and nonresponders.The Journal of clinical investigation · 2025Trial
- Phylogeography of Bone Metastasis: Clonal Evolution, Skeletal Niche Adaptation, and Clinical Implications.International journal of molecular sciences · 2026Review
- Review
- Pan-cancer bone metastasis atlas at single-cell resolution identifies a distinct tumor-associated macrophage subset for mediating Denosumab-induced immunosensitization in lung cancer bone metastasis.International journal of biological sciences · 2026Article
- Diagnostic utility of ESR1 mutation detection in liquid biopsy of metastatic breast cancer patients.Virchows Archiv : an international journal of pathology · 2025Article
- Radiogenomic Landscape of Metastatic Endocrine-Positive Breast Cancer Resistant to Aromatase Inhibitors.Cancers · 2025Review
- Review
- Organ-Specificity of Breast Cancer Metastasis.International journal of molecular sciences · 2023Review
- Novel insights into biomarkers of progression in Desmoid tumor.Frontiers in oncology · 2023Review
- Validation of liquid biopsy for ESR1-mutation analysis in hormone-sensitive breast cancer: a pooled meta-analysis.Frontiers in oncology · 2023Review
- Article
- Urine- and Blood-Based Molecular Profiling of Human Prostate Cancer.Frontiers in oncology · 2022Article
- Research progress of bone metastases: From disease recognition to clinical practice.Frontiers in oncology · 2022Review
- TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.Cancer medicine · 2021Article
- [Relevant mutations in predictive breast cancer pathology].Der Pathologe · 2021Review
- Estrogen/ER in anti-tumor immunity regulation to tumor cell and tumor microenvironment.Cancer cell international · 2021Review
- Currently Applied Molecular Assays for IdentifyingInternational journal of molecular sciences · 2020Review
- Network Pharmacology-Based Study on the Molecular Biological Mechanism of Action for Compound Kushen Injection in Anti-Cancer Effect.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- Estrogen receptor 1 mutations in 260 cervical cancer samples from Chinese patients.Oncology letters · 2019Article
- From latency to overt bone metastasis in breast cancer: potential for treatment and prevention.The Journal of pathology · 2019Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Activating mutations of estrogen receptor α gene (ESR1) in breast cancer can cause endocrine resistance of metastatic tumor cells. The skeleton belongs to the metastatic sides frequently affected by breast cancer. The prevalence of ESR1 mutation in bone metastasis and the corresponding phenotype are not known. In this study bone metastases from breast cancer (n=231) were analyzed for ESR1 mutation. In 27 patients (12%) (median age 73 years, range: 55-82 years) activating mutations of ESR1 were detected. The most frequent mutation was p.D538G (53%), no mutations in exon 4 (K303) or 7 (S463) were found. Lobular breast cancer was present in 52% of mutated cases (n=14) and in 49% of all samples (n=231), respectively. Mutated cancers constantly displayed strong estrogen receptor expression. Progesterone receptor was positive in 78% of the mutated cases (n=21). From 194 estrogen receptor-positive samples, 14% had ESR1 mutated. Except for one mutated case, no concurrent HER2 overexpression was noted. Metastatic breast cancer with activating mutations of ESR1 had a higher Ki67 labeling index than primary luminal cancers (median 30%, ranging from 5 to 60% with 85% of cases revealing ≥20% Ki67-positive cells). From those patients from whom information on endocrine therapy was available (n=7), two had received tamoxifen only, 4 tamoxifen followed by aromatase inhibitors and one patient had been treated with aromatase inhibitors only. We conclude that ESR1 mutation is associated with estrogen receptor expression and high proliferative activity and affects about 14% of estrogen receptor-positive bone metastases from breast cancer.
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