Genome-wide cell-free DNA fragmentation in patients with cancer
| Autor: | Sarah Østrup Jensen, Remond J.A. Fijneman, Cornelis J. A. Punt, Patrick M. Forde, Hatim Husain, Robert B. Scharpf, Julie R. Brahmer, Annemieke Cats, Cornelis J.H. van de Velde, Alessandro Leal, Doreen N. Palsgrove, Miriam Koopman, Claus L. Andersen, Noushin Niknafs, Julia S. Johansen, Nicole C.T. van Grieken, Hans Jørgen Nielsen, Kristen A. Marrone, Gerrit A. Meijer, James R. White, Marcel Verheij, Valsamo Anagnostou, Vilmos Adleff, Jacob Fiksel, Jamie E. Medina, Jillian Phallen, Carolyn Hruban, Brian Woodward, Mai Britt Worm Ørntoft, Jarushka Naidoo, Anders Husted Madsen, Daniel C. Bruhm, Stephen Cristiano, Geraldine R. Vink, Karlijn L. van Rooijen, Victor E. Velculescu |
|---|---|
| Přispěvatelé: | Radiation Oncology, CCA - Cancer biology and immunology, Pathology, AGEM - Re-generation and cancer of the digestive system, Oncology |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Artificial intelligence DNA Mutational Analysis medicine.disease_cause Genome Circulating Tumor DNA Cohort Studies Machine Learning chemistry.chemical_compound Cell-free DNA 0302 clinical medicine Neoplasms Non-U.S. Gov't Mutation Multidisciplinary Research Support Non-U.S. Gov't INTEGRITY 3. Good health Cell-free fetal DNA 030220 oncology & carcinogenesis DNA fragmentation Rare cancers Radboud Institute for Health Sciences [Radboudumc 9] DNA Fragmentation Biology ABERRATIONS Research Support DNA fragmentation patterns N.I.H Cancer screening 03 medical and health sciences Research Support N.I.H. Extramural Journal Article medicine Humans Fragmentation (cell biology) Genome Human CIRCULATING DNA Early cancer diagnosis Extramural Cancer medicine.disease 030104 developmental biology chemistry Case-Control Studies Cancer research Commentary PLASMA DNA DNA |
| Zdroj: | BMC Medicine Nature, 570(7761), 385-+. NATURE PUBLISHING GROUP Cristiano, S, Leal, A, Phallen, J, Fiksel, J, Adleff, V, Bruhm, D C, Jensen, S Ø, Medina, J E, Hruban, C, White, J R, Palsgrove, D N, Niknafs, N, Anagnostou, V, Forde, P, Naidoo, J, Marrone, K, Brahmer, J, Woodward, B D, Husain, H, van Rooijen, K L, Ørntoft, M-B W, Madsen, A H, van de Velde, C J H, Verheij, M, Cats, A, Punt, C J A, Vink, G R, van Grieken, N C T, Koopman, M, Fijneman, R J A, Johansen, J S, Nielsen, H J R, Meijer, G A, Andersen, C L, Scharpf, R B & Velculescu, V E 2019, ' Genome-wide cell-free DNA fragmentation in patients with cancer ', Nature, vol. 570, no. 7761, pp. 385-389 . https://doi.org/10.1038/s41586-019-1272-6 Nature, 570, 7761, pp. 385-389 Nature, 570, 385-389 Nature, 570(7761), 385-389. Nature Publishing Group Cristiano, S, Leal, A, Phallen, J, Fiksel, J, Adleff, V, Bruhm, D C, Jensen, S Ø, Medina, J E, Hruban, C, White, J R, Palsgrove, D N, Niknafs, N, Anagnostou, V, Forde, P, Naidoo, J, Marrone, K, Brahmer, J, Husain, H, van Rooijen, K L, Ørntoft, M-B W, Madsen, A H, van de Velde, C J H, Verheij, M, Cats, A, Punt, C J A, Vink, G R, van Grieken, N C T, Koopman, M, Fijneman, R J A, Johansen, J S, Nielsen, H J, Meijer, G A, Andersen, C L, Scharpf, R B & Velculescu, V E 2019, ' Genome-wide cell-free DNA fragmentation in patients with cancer ', Nature, vol. 570, no. 7761, pp. 385-389 . https://doi.org/10.1038/s41586-019-1272-6 |
| ISSN: | 1476-4687 0028-0836 |
| Popis: | Item does not contain fulltext Cell-free DNA in the blood provides a non-invasive diagnostic avenue for patients with cancer(1). However, characteristics of the origins and molecular features of cell-free DNA are poorly understood. Here we developed an approach to evaluate fragmentation patterns of cell-free DNA across the genome, and found that profiles of healthy individuals reflected nucleosomal patterns of white blood cells, whereas patients with cancer had altered fragmentation profiles. We used this method to analyse the fragmentation profiles of 236 patients with breast, colorectal, lung, ovarian, pancreatic, gastric or bile duct cancer and 245 healthy individuals. A machine learning model that incorporated genome-wide fragmentation features had sensitivities of detection ranging from 57% to more than 99% among the seven cancer types at 98% specificity, with an overall area under the curve value of 0.94. Fragmentation profiles could be used to identify the tissue of origin of the cancers to a limited number of sites in 75% of cases. Combining our approach with mutation-based cell-free DNA analyses detected 91% of patients with cancer. The results of these analyses highlight important properties of cell-free DNA and provide a proof-of-principle approach for the screening, early detection and monitoring of human cancer. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink