Assessing aneuploidy with repetitive element sequencing.
C. Douville, J. D. Cohen, J. Ptak, M. Popoli, J. Schaefer, N. Silliman, L. Dobbyn, R. E. Schoen, J. Tie, P. Gibbs, M. Goggins, C. L. Wolfgang, T.-L. Wang, I.-M. Shih, R. Karchin, A. M. Lennon, R. H. Hruban, C. Tomasetti, C. Bettegowda, K. W. Kinzler, N. Papadopoulos, B. Vogelstein
Abstract
We report a sensitive PCR-based assay that can detect aneuploidy in samples containing as little as 3 picograms of DNA. Using a single primer pair, we amplified [~]750,000 amplicons distributed throughout the genome Aneuploidy was detected in 49% of liquid biopsies from a total of 883 non-metastatic cancers of eight different types. Combining aneuploidy with somatic mutation detection and eight standard protein biomarkers yielded a median sensitivity of 80% at 99% specificity.
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