ArticleScientific reports2021
Development of multiplex digital PCR assays for the detection of PIK3CA mutations in the plasma of metastatic breast cancer patients.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Emerging Strategies Targeting the PI3K/AKT/mTOR Pathway in HR+/HER2- Advanced Breast Cancer.Drugs · 2026Review
- Expert recommendations for PIK3CA testing in HR+/HER2- locally advanced and metastatic breast cancer.NPJ breast cancer · 2026Review
- Review
- Analytical and clinical validation of a novel CE-IVD kit forThe journal of liquid biopsy · 2026Article
- Next-generation sequencing methodologies to identify patients for targeted therapy: focus on HR+/HER2- metastatic breast cancer.Pathologica · 2025Review
- The role of NETosis in breast cancer: mechanistic insights and biomarker potential.Breast cancer research : BCR · 2025Review
- Plasma-based analysis of ERBB2 mutational status by multiplex digital PCR in a large series of patients with metastatic breast cancer.Molecular oncology · 2024Article
- Detection of (pre)cancerous colorectal lesions in Lynch syndrome patients by microsatellite instability liquid biopsy.Cancer gene therapy · 2024Article
- Identification of breast cancer-associated PIK3CA H1047R mutation in blood circulation using an asymmetric PCR assay.PloS one · 2024Article
- Allele-Specific PCR for PIK3CA Mutation Detection Using Phosphoryl Guanidine Modified Primers.Diagnostics (Basel, Switzerland) · 2023Article
- Evaluation ofFrontiers in molecular biosciences · 2023Article
- The role of TSC2 in breast cancer: a literature review.Frontiers in oncology · 2023Review
- The Clinical Utility of Droplet Digital PCR for Profiling Circulating Tumor DNA in Breast Cancer Patients.Diagnostics (Basel, Switzerland) · 2022Review
- Skin Cancer Research Goes Digital: Looking for Biomarkers within the Droplets.Journal of personalized medicine · 2022Review
- Digital Droplet PCR in Hematologic Malignancies: A New Useful Molecular Tool.Diagnostics (Basel, Switzerland) · 2022Review
- Primary breast angiosarcoma: A case report.Frontiers in surgery · 2022Article
- Article
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12 authors.
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Abstract
With the approval of new therapies targeting the PI3K pathway, the detection of PIK3CA mutations has become a key factor in treatment management for HR+/HER2- metastatic breast cancer (MBC). We developed multiplex digital PCR (dPCR) assays to detect and quantify PIK3CA mutations. A first screening assay allows the detection of 21 mutations, with a drop-off system targeting the 542-546 hotspot mutations combined with the simultaneous detection of N345K, C420R, H1047L and H1047R mutations. In the case of a positive result, a sequential strategy based on other assays that we have developped allows for precise mutation identification. Clinical validity was determined by analyzing plasma circulating free DNA (cfDNA) from 213 HR+/HER2- MBC samples, as well as DNA extracted from 97 available matched tumors from 89 patients. Our assays have shown reliable specificity, accuracy and reproducibility, with limits of blank of three and four droplets for the screening assay. Sixty-eight patients (32%) had at least one PIK3CA mutation detectable in their plasma, and we obtained 83.1% agreement between the cfDNA analysis and the corresponding tumors. The high sensitivity and robustness of these new dPCR assays make them well-suited for rapid and cost-effective detection of PIK3CA mutations in the plasma of MBC patients.
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