ArticleBreast cancer research : BCR2020
Clinical implications of prospective genomic profiling of metastatic breast cancer patients.
Article in Breast cancer research : BCR, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Discordance of PIK3CA mutational status between primary and metastatic breast cancer: a systematic review and meta-analysis.Breast cancer research and treatment · 2023Pooled it
- Genomic Characterization and Prognostic Significance of Human Epidermal Growth Factor Receptor 2-Low, Hormone Receptor-Positive, Early Breast Cancers From the BIG 1-98 and SOFT Clinical Trials.JCO precision oncology · 2025Trial
- Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor-Positive Breast Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Trial
- Genomic characterization of ER-positive primary tumors and corresponding relapses identifies potentially targetable alterations.NPJ breast cancer · 2026Article
- Beyond Molecular Classification in Metastatic Triple-Negative Breast Cancer: Toward Subtype-Guided Precision Oncology.International journal of molecular sciences · 2026Review
- Review
- Precision Oncology Guided by Genomic Profiling in Breast Cancer: Real-World Data from a Molecular Tumor Board.Cancers · 2025Article
- ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.The journal of liquid biopsy · 2025Article
- Optimizing second-line endocrine-based treatment in HR positive HER2 negative metastatic breast cancer: a comprehensive expert statement from the Gulf Cooperation Council Region.Frontiers in oncology · 2025Review
- Next-generation sequencing in the management of cancer: an evaluation of the clinical effectiveness in Jordan.Therapeutic advances in medical oncology · 2025Article
- Review
- Sustained lymphocyte decreases after treatment for early breast cancer.NPJ breast cancer · 2024Article
- Real-World Data and Clinical Implications of Next-Generation Sequencing (NGS)-Based Analysis in Metastatic Breast Cancer Patients.International journal of molecular sciences · 2024Article
- The modification role and tumor association with a methyltransferase: KMT2C.Frontiers in immunology · 2024Review
- Review
- Whole Exome Analysis to Select Targeted Therapies for Patients with Metastatic Breast Cancer - A Feasibility Study.Geburtshilfe und Frauenheilkunde · 2023Article
- Article
- Molecular portraits of cell cycle checkpoint kinases in cancer evolution, progression, and treatment responsiveness.Science advances · 2023Article
- Genomic characterisation of hormone receptor-positive breast cancer arising in very young women.Annals of oncology : official journal of the European Society for Medical Oncology · 2023Article
- Review
Corrections and comments
- Erratum issued
Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMetastatic breast cancer remains incurable. Next-generation sequencing (NGS) offers the ability to identify actionable genomic alterations in tumours which may then be matched with targeted therapies, but the implementation and utility of this approach is not well defined for patients with metastatic breast cancer.
methodsWe recruited patients with advanced breast cancer of any subtype for prospective targeted NGS of their most recent tumour samples, using a panel of 108 breast cancer-specific genes. Genes were classified as actionable or non-actionable using the European Society of Medical Oncology Scale for Clinical Actionability of Molecular Targets (ESCAT) guidelines.
resultsBetween February 2014 and May 2019, 322 patients were enrolled onto the study, with 72% (n = 234) of patients successfully sequenced (n = 357 samples). The majority (74%, n = 171) of sequenced patients were found to carry a potentially actionable alteration, the most common being a PIK3CA mutation. Forty-three percent (n = 74) of patients with actionable alterations were referred for a clinical trial or referred for confirmatory germline testing or had a change in therapy outside of clinical trials. We found alterations in AKT1, BRCA2, CHEK2, ESR1, FGFR1, KMT2C, NCOR1, PIK3CA and TSC2 to be significantly enriched in our metastatic population compared with primary breast cancers. Concordance between primary and metastatic samples for key driver genes (TP53, ERBB2 amplification) was > 75%. Additionally, we found that patients with a higher number of mutations had a significantly worse overall survival.
conclusionGenomic profiling of patients with metastatic breast cancer can have clinical implications and should be considered in all suitable patients.
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