Assessing aneuploidy with repetitive element sequencing
- Author(s)
- Douville, C; Cohen, JD; Ptak, J; Popoli, M; Schaefer, J; Silliman, N; Dobbyn, L; Schoen, RE; Tie, J; Gibbs, P; Goggins, M; Wolfgang, CL; Wang, TL; Shih, IM; Karchin, R; Lennon, AM; Hruban, RH; Tomasetti, C; Bettegowda, C; Kinzler, KW; Papadopoulos, N; Vogelstein, B;
- Details
- Publication Year 2020-02-19,Volume 117,Issue #9,Page 4858-4863
- Journal Title
- Proceedings of the National Academy of Sciences of the United States of America
- Publication Type
- Journal Article
- 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 approximately 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.
- Keywords
- aneuploidy; circulating tumor DNA; early cancer detection; liquid biopsy;
- Research Division(s)
- Personalised Oncology
- PubMed ID
- 32075918
- Publisher's Version
- https://doi.org/10.1073/pnas.1910041117
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2020-05-04 11:46:55
Last Modified: 2020-05-04 02:14:38