Assessing aneuploidy with repetitive element sequencing.
basic_science · Level V
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- Record sourced from PubMed, PMID 32075918.
- Also identified by DOI 10.1073/pnas.1910041117 and PMC identifier 7060727.
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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.
Medical subject headings
- Aneuploidy
- Neoplasms
- Repetitive Sequences, Nucleic Acid