Assessing aneuploidy with repetitive element sequencing.


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.

  • 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
PubMed ID
Appears In
Proc Natl Acad Sci U S A, 2020, 117 (9)