ArticleMolecular genetics & genomic medicine2020
Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 29 citations in OpenAlex.
- Circulating tumor DNA predicts efficacy of a dual AKT/p70S6K inhibitor (LY2780301) plus paclitaxel in metastatic breast cancer: plasma analysis of the TAKTIC phase IB/II study.Molecular oncology · 2022Trial
- Unraveling the Potential of ctDNA in Precision Medicine for Breast Cancer.Molecular diagnosis & therapy · 2025Review
- Circulating tumour DNA as a promising biomarker for breast cancer diagnosis & treatment monitoring.The Indian journal of medical research · 2025Review
- Personalized treatment approach for HER2-positive metastatic breast cancer.Medical oncology (Northwood, London, England) · 2024Review
- Thromboelastogram and coagulation function index: relevance for female breast cancer.Frontiers in oncology · 2024Article
- Review
- Potential predictive value of circulating tumor DNA (ctDNA) mutations for the efficacy of immune checkpoint inhibitors in advanced triple-negative breast cancer.Frontiers in genetics · 2023Article
- DNA Damage Response in Cancer Therapy and Resistance: Challenges and Opportunities.International journal of molecular sciences · 2022Review
- Liquid Biopsy as a Tool for the Diagnosis, Treatment, and Monitoring of Breast Cancer.International journal of molecular sciences · 2022Review
- Review
- Article
- Clearance of ctDNA in triple-negative and HER2-positive breast cancer patients during neoadjuvant treatment is correlated with pathologic complete response.Therapeutic advances in medical oncology · 2022Article
- Review
- Review
- Article
- Clinical implications of plasma ctDNA features and dynamics in gastric cancer treated with HER2-targeted therapies.Clinical and translational medicine · 2020Article
- The Polemic Diagnostic Role ofCancers · 2020Review
- Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.Molecular genetics & genomic medicine · 2020Article
- Tumor Profiling at the Service of Cancer Therapy.Frontiers in oncology · 2020Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOne of the major challenges in managing invasive breast cancer (BC) is the lack of reliable biomarkers to track response. Circulating tumor DNA (ctDNA) from liquid biopsy, as a candidate biomarker, provides a valuable assessment of BC patients. In this retrospective study, we evaluated the utility of ctDNA to reflect the efficacy of treatment and to monitor resistance mechanisms.
methodsTargeted next-generation sequencing (NGS) of 416 cancer-relevant genes was performed on 41 plasma biopsy samples of 19 HER2+ and 12 HER2- BC patients. Longitudinal ctDNA samples were analyzed in three BC patients over the treatment course for detecting acquired mutations.
resultsIn HER2+ BC patients, ERBB2 somatic copy numbers in ctDNA samples were significantly higher in patients progressed on HER2-targeted therapy than those who were still responding to the treatment. Recurrent acquired mutations were detected in genes including ERBB2, TP53, EGFR, NF1, and SETD2, which may contribute to trastuzumab resistance. In longitudinal analyses, the observed mutation allele frequencies were tracked closely in concordance with treatment responses. A novel ERBB2 p.(Leu869Arg) mutation was acquired in one patient upon resistant to trastuzumab therapy, which was further validated as an oncogenic mutation in vitro and contributed to resistance. In HER2- BC patients with chemotherapy resistance, genetic alterations on TP53, PIK3CA, and DNA damage repair genes were frequently observed.
conclusionsIn summary, ctDNA monitoring, particularly longitudinal analyses, provides valuable insights into the assessment of targeted therapy efficacy and gene alterations underlying trastuzumab resistance and chemotherapy resistance in HER2+ and HER2- BC patients, respectively.
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