Journal article
Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA
T Forshew, M Murtaza, C Parkinson, D Gale, DWY Tsui, F Kaper, SJ Dawson, AM Piskorz, M Jimenez-Linan, D Bentley, J Hadfield, AP May, C Caldas, JD Brenton, N Rosenfeld
Science Translational Medicine | AMER ASSOC ADVANCEMENT SCIENCE | Published : 2012
Abstract
Plasma of cancer patients contains cell-free tumor DNA that carries information on tumor mutations and tumor burden. Individual mutations have been probed using allele-specific assays, but sequencing of entire genes to detect cancer mutations in circulating DNA has not been demonstrated. We developed a method for tagged-amplicon deep sequencing (TAm-Seq) and screened 5995 genomic bases for low-frequency mutations. Using this method, we identified cancer mutations present in circulating DNA at allele frequencies as low as 2%, with sensitivity and specificity of >97%. We identified mutations throughout the tumor suppressor gene TP53 in circulating DNA from 46 plasma samples of advanced ovarian..
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Funding Acknowledgements
We acknowledge the support of Cancer Research UK, the University of Cambridge, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge Experimental Cancer Medicine Centre, and Hutchison Whampoa Limited. C. P. was supported in part by the Academy of Medical Sciences, Wellcome Trust, British Heart Foundation, and Arthritis Research UK.