| Literature DB >> 32075918 |
Christopher Douville1,2,3,4, Joshua D Cohen1,2,3,4,5, Janine Ptak1,2,3,4, Maria Popoli1,2,3,4, Joy Schaefer1,2,3,4, Natalie Silliman1,2,3,4, Lisa Dobbyn1,2,3,4, Robert E Schoen6,7, Jeanne Tie8,9,10,11, Peter Gibbs8,9,10, Michael Goggins2,3,12,13,14, Christopher L Wolfgang15, Tian-Li Wang2,12,13, Ie-Ming Shih12,16, Rachel Karchin5,13,17, Anne Marie Lennon2,3,13,14,15, Ralph H Hruban12,13, Cristian Tomasetti2,18, Chetan Bettegowda1,2,3,19, Kenneth W Kinzler1,2,3, Nickolas Papadopoulos1,2,3, Bert Vogelstein20,2,3,4.
Abstract
We report a sensitive PCR-based assay called Repetitive Element AneupLoidy Sequencing System (RealSeqS) that can detect aneuploidy in samples containing as little as 3 pg of DNA. Using a single primer pair, we amplified ∼350,000 amplicons distributed throughout the genome. Aneuploidy was detected in 49% of liquid biopsies from a total of 883 nonmetastatic, clinically detected cancers of the colorectum, esophagus, liver, lung, ovary, pancreas, breast, or stomach. Combining aneuploidy with somatic mutation detection and eight standard protein biomarkers yielded a median sensitivity of 80% in these eight cancer types, while only 1% of 812 healthy controls scored positive.Entities:
Keywords: aneuploidy; circulating tumor DNA; early cancer detection; liquid biopsy
Year: 2020 PMID： 32075918 PMCID： PMC7060727 DOI： 10.1073/pnas.1910041117
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205