Journal
FRONTIERS IN GENETICS
Volume 12, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2021.759832
Keywords
cancer; early detection; non-invasive; cell-free DNA; sequencing
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Funding
- NCI NIH HHS [R21 CA248122] Funding Source: Medline
- NIGMS NIH HHS [R01 GM129066] Funding Source: Medline
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An effective strategy for early cancer detection requires a delicate balance in periodic screening, and genomic profiling of cell-free DNA is emerging as an attractive platform for sensitive detection of multiple types of cancer.
Early detection of cancer saves lives, but an effective detection strategy in public health settings requires a delicate balance - periodic screening should neither miss rapidly progressing disease nor fail to detect rare tumors at unusual locations; on the other hand, even a modest false positive rate carries risks of over-diagnosis and over-treatment of relatively indolent non-malignant disease. Genomic profiling of cell-free DNA from liquid biopsy using massively parallel sequencing is emerging as an attractive, non-invasive screening platform for sensitive detection of multiple types of cancer in a single assay. Genomic data from cell-free DNA can not only identify oncogenic mutation status, but also additional molecular signatures related to potential tissue of origin, the extent of clonal growth, and malignant disease states. Utilization of the full potential of the molecular signatures from cfDNA sequencing data can guide clinical management strategies for targeted follow-ups using imaging or molecular marker-based diagnostic platforms and treatment options.
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