Research ArticleCancer

Direct detection of early-stage cancers using circulating tumor DNA

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Science Translational Medicine  16 Aug 2017:
Vol. 9, Issue 403, eaan2415
DOI: 10.1126/scitranslmed.aan2415

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Finding smaller needles in haystacks

The detection and analysis of cell-free DNA in patients’ blood are becoming increasingly accepted in oncology. However, this approach has generally been applied for the monitoring of patients with existing tumors. It has not been useful for early diagnosis of cancer because of insufficient sensitivity to detect really small tumors that only shed minute quantities of DNA into the blood, as well as difficulties with identifying cancer-associated genetic changes without knowing what mutations are present in the primary tumor. A method developed by Phallen et al., called targeted error correction sequencing, addresses both of these limitations and demonstrates the feasibility of detecting circulating cell-free DNA from many early tumors, suggesting its potential use for cancer screening.