ArticleOncogene2022
Microsatellite instability detection in breast cancer using drop-off droplet digital PCR.
Article in Oncogene, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Circulating Tumor DNA Monitoring in Patients with Uveal Melanoma Using Mutation-Agnostic Multiplex Drop-Off ddPCR Assays.Analytical chemistry · 2026Article
- AXINEO: AXIllary response to NEOadjuvant chemotherapy for breast cancer: can we predict response based on a biomarker panel?Archives of gynecology and obstetrics · 2025Article
- Lights and shadows of microsatellite status characterization in gastrointestinal cancers in the era of cancer precision therapy.Pathologica · 2025Review
- Molecular Basis of Breast Tumor Heterogeneity.Advances in experimental medicine and biology · 2025Review
- MSI-H Detection by ddPCR in Endoscopic Ultrasound Fine Needle Biopsy (EUS-FNB) from Pancreatic Ductal Adenocarcinoma.International journal of molecular sciences · 2024Article
- Detection of (pre)cancerous colorectal lesions in Lynch syndrome patients by microsatellite instability liquid biopsy.Cancer gene therapy · 2024Article
- Pembrolizumab response in stage IV luminal-type breast cancer with high microsatellite instability: a case report.Journal of medical case reports · 2024Article
- Review
- Omics-Based Investigations of Breast Cancer.Molecules (Basel, Switzerland) · 2023Review
- Development of a Detection System forDiagnostics (Basel, Switzerland) · 2023Article
- Liquid biopsy approaches to capture tumor evolution and clinical outcomes during cancer immunotherapy.Journal for immunotherapy of cancer · 2023Review
Corrections and comments
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Authors and funding
20 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The use of conventional methods (immunohistochemistry, pentaplex PCR) for detecting microsatellite instability (MSI), a predictive biomarker of immunotherapy efficacy, is debated for cancers with low MSI prevalence, such as breast cancer (BC). We developed two multiplex drop-off droplet digital PCR (ddPCR) assays targeting four microsatellites, initially identified from public BC whole-genome sequencing dataset. Performances of the assays were investigated and 352 tumor DNA and 28 circulating cell-free DNA from BC patients, with unknown MSI status were blindly screened. Cross-validation of ddPCR MSI status with other MSI detection methods was performed. We then monitored circulating tumor DNA (ctDNA) dynamics before and during pembrolizumab immunotherapy in one patient with MSI-high (MSI-H) metastatic BC. The assays showed high analytical specificity and sensitivity (limit of detection = 0.16%). Among N = 380 samples, seven (1.8%) were found as MSI-H by ddPCR with six of them confirmed by next-generation sequencing (NGS). Specificity was 100% in N = 133 microsatellite stable BC submitted to NGS. In the patient with MSI-H metastatic BC, ctDNA monitoring revealed an early decrease of microsatellite mutant allelic frequencies during immunotherapy. These results demonstrated MSI detection by ddPCR, a non-invasive, fast and cost-effective approach, allowing for large pre-screening of BC patients who may benefit from immunotherapy.
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