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Related Concept Videos

Epigenetic Regulation01:37

Epigenetic Regulation

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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
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Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
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Epigenetic Profiling of CUP

    Cancer Discovery
    |September 24, 2016
    PubMed
    Summary
    This summary is machine-generated.

    DNA methylation profiling shows promise for identifying the origin of unknown primary tumors. A new assay, EPICUP, accurately predicted tumor sites in 87% of cases, aiding cancer diagnosis.

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    Area of Science:

    • Oncology
    • Molecular Diagnostics
    • Genomics

    Background:

    • Cancer of unknown primary (CUP) presents a diagnostic challenge, impacting treatment strategies and patient outcomes.
    • Accurate identification of the primary tumor site is crucial for effective targeted therapy in CUP cases.

    Purpose of the Study:

    • To evaluate the utility of DNA methylation profiling for determining the primary tumor site in cancers of unknown primary.
    • To assess the diagnostic accuracy of a novel assay, EPICUP, in predicting the origin of CUPs.

    Main Methods:

    • Development and application of the EPICUP assay, a DNA methylation profiling tool.
    • Analysis of DNA methylation patterns in a cohort of 216 patients with CUP.
    • Validation of predicted primary tumor sites using immunohistochemistry and other diagnostic methods.

    Main Results:

    • The EPICUP assay successfully predicted the primary tumor site in 87% of the 216 evaluated cases.
    • Methylation profiling provided a significant advancement in pinpointing tumor origins compared to conventional diagnostic approaches.

    Conclusions:

    • DNA methylation profiling, as implemented by the EPICUP assay, is a highly effective tool for unmasking the origin of cancer of unknown primary.
    • This approach has the potential to significantly improve diagnostic accuracy and guide treatment decisions for CUP patients.