| Autor: |
Stavroula Smilkou, Aliki Ntzifa, Dimitra Stergiopoulou, Vasilis Georgoulias, Evi Lianidou |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
The Journal of Liquid Biopsy, Vol 5, Iss , Pp 100154- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2950-1954 |
| DOI: |
10.1016/j.jlb.2024.100154 |
| Popis: |
Introduction: ESR1 mutations are now established as a key mechanism of resistance to endocrine therapy in estrogen-receptor–positive breast cancer (ER+ breast cancer) and their sensitive and specific detection in plasma-cell free DNA (plasma-cfDNA) is crucial to monitor during patient treatment. In the present proof-of-principle study, we evaluated the performance of a novel multiplex assay (12plex) for the detection of ten ESR1 mutations and AKT1 E17K in plasma-cfDNA based on Crystal Digital PCR® (Stilla Technologies, France). Materials & methods: We analyzed 35 plasma-cfDNA samples from ER+ breast cancer patients and 10 samples from healthy donors and further compared the results with our previously reported ESR1 NAPA assay for D538G, Y537S, Y537C and Y537 N ESR1 mutations. Results: Using this novel 12plex ESR1-AKT 6-color Crystal Digital PCR® assay we detected both AKT1 E17K and ESR1 D538G mutations in 5/35 (14.3%) plasma-cfDNA samples. ESR1 D538G was detected in 4/35 (11.4%) of these plasma-cfDNA samples using the ESR1 NAPA assay. Direct comparison between Crystal Digital PCR™ and the ESR1 NAPA assay revealed a high concordance (97.1%, k = 0.871, p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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