دورية أكاديمية
Detection and characterization of lung cancer using cell-free DNA fragmentomes
| العنوان: | Detection and characterization of lung cancer using cell-free DNA fragmentomes |
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| المؤلفون: | Mathios, Dimitrios, Johansen, Jakob Sidenius, Cristiano, Stephen, Medina, Jamie E., Phallen, Jillian, Larsen, Klaus R., Bruhm, Daniel C., Niknafs, Noushin, Ferreira, Leonardo, Adleff, Vilmos, Chiao, Jia Yuee, Leal, Alessandro, Noe, Michael, White, James R., Arun, Adith S., Hruban, Carolyn, Annapragada, Akshaya V., Jensen, Sarah Østrup, Ørntoft, Mai-Britt Worm, Madsen, Anders Husted, Carvalho, Beatriz, de Wit, Meike, Carey, Jacob, Dracopoli, Nicholas C., Maddala, Tara, Fang, Kenneth C., Hartman, Anne-Renee, Forde, Patrick M., Anagnostou, Valsamo, Brahmer, Julie R., Fijneman, Remond J. A., Nielsen, Hans Jørgen, Meijer, Gerrit A., Andersen, Claus Lindbjerg, Mellemgaard, Anders, Bojesen, Stig E., Scharpf, Robert B., Velculescu, Victor E. |
| المساهمون: | Dr. Miriam and Sheldon G. Adelson Medical Research Foundation, SU2C in-Time Lung Cancer Interception Dream Team Grant, Stand Up to Cancer-Dutch Cancer Society International Translational Cancer Research Dream Team Grant |
| المصدر: | Nature Communications ; volume 12, issue 1 ; ISSN 2041-1723 |
| بيانات النشر: | Springer Science and Business Media LLC |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary |
| الوصف: | Non-invasive approaches for cell-free DNA (cfDNA) assessment provide an opportunity for cancer detection and intervention. Here, we use a machine learning model for detecting tumor-derived cfDNA through genome-wide analyses of cfDNA fragmentation in a prospective study of 365 individuals at risk for lung cancer. We validate the cancer detection model using an independent cohort of 385 non-cancer individuals and 46 lung cancer patients. Combining fragmentation features, clinical risk factors, and CEA levels, followed by CT imaging, detected 94% of patients with cancer across stages and subtypes, including 91% of stage I/II and 96% of stage III/IV, at 80% specificity. Genome-wide fragmentation profiles across ~13,000 ASCL1 transcription factor binding sites distinguished individuals with small cell lung cancer from those with non-small cell lung cancer with high accuracy (AUC = 0.98). A higher fragmentation score represented an independent prognostic indicator of survival. This approach provides a facile avenue for non-invasive detection of lung cancer. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1038/s41467-021-24994-w |
| الإتاحة: | https://doi.org/10.1038/s41467-021-24994-wTest https://www.nature.com/articles/s41467-021-24994-w.pdfTest https://www.nature.com/articles/s41467-021-24994-wTest |
| حقوق: | https://creativecommons.org/licenses/by/4.0Test ; https://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: | edsbas.33DD487C |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41467-021-24994-w |
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