Detection of Clonal and Subclonal Copy-Number Variants in Cell-Free DNA from Patients with Breast Cancer Using a Massively Multiplexed PCR Methodology

@inproceedings{Kirkizlar2015DetectionOC,
  title={Detection of Clonal and Subclonal Copy-Number Variants in Cell-Free DNA from Patients with Breast Cancer Using a Massively Multiplexed PCR Methodology},
  author={Eser Kirkizlar and Bernhard G. Zimmermann and Tudor P Constantin and Ryan K Swenerton and Bin Hoang and Nicholas Wayham and Joshua Babiarz and Zachary P. Demko and Robert J. Pelham and Stephanie Kareht and A L Simon and Kristine N. Jinnett and Matthew Rabinowitz and Styrmir Sigurjonsson and Matthew Hill},
  booktitle={Translational oncology},
  year={2015}
}
We demonstrate proof-of-concept for the use of massively multiplexed PCR and next-generation sequencing (mmPCR-NGS) to identify both clonal and subclonal copy-number variants (CNVs) in circulating tumor DNA. This is the first report of a targeted methodology for detection of CNVs in plasma. Using an in vitro model of cell-free DNA, we show that mmPCR-NGS can accurately detect CNVs with average allelic imbalances as low as 0.5%, an improvement over previously reported whole-genome sequencing… CONTINUE READING

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