Assessing aneuploidy with repetitive element sequencing.
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.
Authors
- Bettegowda C
- Cohen JD
- Dobbyn L
- Douville C
- Gibbs P
- Goggins M
- Hruban RH
- Karchin R
- Kinzler KW
- Lennon AM
- Papadopoulos N
- Popoli M
- Ptak J
- Schaefer J
- Schoen RE
- Shih IM
- Silliman N
- Tie J
- Tomasetti C
- Vogelstein B
- Wang TL
- Wolfgang CL