AI Article Synopsis
- Circulating tumor DNA (ctDNA) analysis is gaining importance for diagnosing and monitoring cancer but is challenging due to low DNA levels and technical issues.
- This study presents a new method called HYTEC-seq, which improves ctDNA detection using Ion Torrent sequencing by combining hybridization capture and molecular tagging.
- HYTEC-seq has shown promising results, detecting mutations in plasma samples from advanced pancreatic cancer patients with high sensitivity (down to 0.1%) and specificity (>99.99%), identifying mutations in 57% of tested patients.
Article Abstract
Circulating tumor DNA (ctDNA) analysis has emerged as a clinically useful tool for cancer diagnostics and treatment monitoring. However, ctDNA detection is complicated by low DNA concentrations and technical challenges. Here we describe our newly developed sensitive method for ctDNA detection on the Ion Torrent sequencing platform, which we call HYbridization- and Tag-based Error-Corrected sequencing (HYTEC-seq). This method combines hybridization-based capture with molecular tags, and the novel variant caller PlasmaMutationDetector2 to eliminate background errors. We describe the validation of HYTEC-seq using control samples with known mutations, demonstrating an analytical sensitivity down to 0.1% at > 99.99% specificity. Furthermore, to demonstrate the utility of this method in a clinical setting, we analyzed plasma samples from 44 patients with advanced pancreatic cancer, revealing mutations in 57% of the patients at allele frequencies as low as 0.23%.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8986848 | PMC |
| http://dx.doi.org/10.1038/s41598-022-09698-5 | DOI Listing |
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