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Utilization of MBD-Seq to Elucidate Differentially Methylated Regions in cfDNA Across Healthy and Cancer Patients

The 5-Methylcytosine (5-mC) epigenetic DNA modification alters gene expression and genome metabolism, and its deregulation is associated with many human diseases. Cell-Free DNA (cfDNA) released from apoptotic cells has recently gained attention, as mutations or epimutations (e.g. 5-mC variations) detected in cfDNA were shown to have high diagnostic potential to assess the presence, stage and outcome of several cancers. However, 5-mC detection in cfDNA remains a challenge as input material is often very scarce. MBD-Seq is a method that leverages the ability of Methyl-CpG-binding domain protein 2 (MBD2) to capture and detect highly methylated regions of DNA genome-wide. This AACR 2024 poster demonstrates use of MBD-Seq for the detection of aberrant methylation patterns in cfDNA from healthy and diseased patients, finding it to be specific and sensitive, revealing striking differences in methylation of key tumor-associated genes.

cfDNA AARC 2024 Poster

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