Assessing aneuploidy with repetitive element sequencing
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
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.
aneuploidy; circulating tumor DNA; early cancer detection; liquid biopsy;
WEHI Research Division(s)
Personalised Oncology
PubMed ID
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Creation Date: 2020-05-04 11:46:55
Last Modified: 2020-05-04 02:14:38
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