The DOI matches its Crossref record; 66 of the 66 references it cites were found in a registry or an index.
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants
Open accessAbstract
Accurate identification of tumor-derived somatic variants in plasma circulating cell-free DNA (cfDNA) requires understanding of the various biological compartments contributing to the cfDNA pool. We sought to define the technical feasibility of a high-intensity sequencing assay of cfDNA and matched white blood cell DNA covering a large genomic region (508 genes; 2 megabases; >60,000× raw depth) in a prospective study of 124 patients with metastatic cancer, with contemporaneous matched tumor tissue biopsies, and 47 controls without cancer. The assay displayed high sensitivity and specificity, allowing for de novo detection of tumor-derived mutations and inference of tumor mutational burden, microsatellite instability, mutational signatures and sources of somatic mutations identified in cfDNA. The vast majority of cfDNA mutations (81.6% in controls and 53.2% in patients with cancer) had features consistent with clonal hematopoiesis. This cfDNA sequencing approach revealed that clonal hematopoiesis constitutes a pervasive biological phenomenon, emphasizing the importance of matched cfDNA–white blood cell sequencing for accurate variant interpretation. Ultra-sensitive cell-free DNA (cfDNA) sequencing uncovers clonal hematopoiesis as a major source of somatic cfDNA variants in healthy individuals and patients with cancer, and underscores the importance of matched white blood cell DNA sequencing in liquid biopsy procedures.
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Self-citationAnalysis of protein-coding genetic variation in 60,706 humans
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PD-1 Blockade in Tumors with Mismatch-Repair Deficiency
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Self-citationDetection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies
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Self-citationAge-related clonal hematopoiesis associated with adverse outcomes
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Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence
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Self-citationLiquid biopsies come of age: Towards implementation of circulating tumour DNA
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Cited by
Liu, M. C., Oxnard, G. R., Klein, E. A., Swanton, C., Seiden, M. V., Liu, M. C., Oxnard, G. R., Klein, E. A., Smith, D., Richards, D., et al. (2020) · Annals of Oncology · doi:10.1016/j.annonc.2020.02.011 · Cited by 1,495
Self-citationLiquid biopsy enters the clinic — implementation issues and future challenges
Ignatiadis, M., Sledge, G. W., & Jeffrey, S. S. (2021) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-020-00457-x · Cited by 1,191
Ganesh, K., & Massagué, J. (2021) · Nature Medicine · doi:10.1038/s41591-020-01195-4 · Cited by 1,051
Pascual, J., Attard, G., Bidard, F.-C., Curigliano, G., De Mattos-Arruda, L., Diehn, M., Italiano, A., Lindberg, J., Merker, J. D., Montagut, C., et al. (2022) · Annals of Oncology · doi:10.1016/j.annonc.2022.05.520 · Cited by 783
Self-citationRolfo, C., Mack, P., Scagliotti, G. V., Aggarwal, C., Arcila, M. E., Barlesi, F., Bivona, T., Diehn, M., Dive, C., Dziadziuszko, R., et al. (2021) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2021.06.017 · Cited by 683
Metadata
- Authors
- Razavi, P., Li, B. T., Brown, D. N., Jung, B., Hubbell, E., Shen, R., Abida, W., Juluru, K., De Bruijn, I., Hou, C., Venn, O., Lim, R., Anand, A., Maddala, T., Gnerre, S., Vijaya Satya, R., Liu, Q., Shen, L., Eattock, N., Yue, J., Blocker, A. W., Lee, M., Sehnert, A., Xu, H., Hall, M. P., Santiago-Zayas, A., Novotny, W. F., Isbell, J. M., Rusch, V. W., Plitas, G., Heerdt, A. S., Ladanyi, M., Hyman, D. M., Jones, D. R., Morrow, M., Riely, G. J., Scher, H. I., Rudin, C. M., Robson, M. E., Diaz, L. A., Solit, D. B., Aravanis, A. M., & Reis-Filho, J. S.
- Venue
- Nature Medicine
- Published
- 2019-11-25
- Volume
- 25
- Issue
- 12
- Pages
- 1928-1937
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- OpenAlex
- W2990870977
- Cited by
- 769
- References
- 66
- FWCI
- 29.79
- Type
- journal article
- Language
- en
- Open access
- green
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- Razavi, P., Li, B. T., Brown, D. N., Jung, B., Hubbell, E., Shen, R., Abida, W., Juluru, K., De Bruijn, I., Hou, C., Venn, O., Lim, R., Anand, A., Maddala, T., Gnerre, S., Vijaya Satya, R., Liu, Q., Shen, L., Eattock, N., . . . Reis-Filho, J. S. (2019). High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants. Nature Medicine. https://doi.org/10.1038/s41591-019-0652-7
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