MIMESIS: minimal DNA-methylation signatures to quantify and classify tumor signals in tissue and cell-free DNA samples
| العنوان: | MIMESIS: minimal DNA-methylation signatures to quantify and classify tumor signals in tissue and cell-free DNA samples |
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| المؤلفون: | Dario Romagnoli, Agostina Nardone, Francesca Galardi, Marta Paoli, Francesca De Luca, Chiara Biagioni, Gian Marco Franceschini, Marta Pestrin, Giuseppina Sanna, Erica Moretti, Francesca Demichelis, Ilenia Migliaccio, Laura Biganzoli, Luca Malorni, Matteo Benelli |
| المصدر: | Briefings in Bioinformatics. 24 |
| بيانات النشر: | Oxford University Press (OUP), 2023. |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Molecular Biology, Information Systems |
| الوصف: | DNA-methylation alterations are common in cancer and display unique characteristics that make them ideal markers for tumor quantification and classification. Here we present MIMESIS, a computational framework exploiting minimal DNA-methylation signatures composed by a few dozen informative DNA-methylation sites to quantify and classify tumor signals in tissue and cell-free DNA samples. Extensive analyses of multiple independent and heterogenous datasets including >7200 samples demonstrate the capability of MIMESIS to provide precise estimations of tumor content and to enable accurate classification of tumor type and molecular subtype. To assess our framework for clinical applications, we designed a MIMESIS-informed assay incorporating the minimal signatures for breast cancer. Using both artificial samples and clinical serial cell-free DNA samples from patients with metastatic breast cancer, we show that our approach provides accurate estimations of tumor content, sensitive detection of tumor signal and the ability to capture clinically relevant molecular subtype in patients’ circulation. This study provides evidence that our extremely parsimonious approach can be used to develop cost-effective and highly scalable DNA-methylation assays that could support and facilitate the implementation of precision oncology in clinical practice. |
| تدمد: | 1477-4054 1467-5463 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::22c717fae5b69b7fb2851481a01f003bTest https://doi.org/10.1093/bib/bbad015Test |
| حقوق: | EMBARGO |
| رقم الانضمام: | edsair.doi...........22c717fae5b69b7fb2851481a01f003b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14774054 14675463 |
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