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Epigenetic Regulation01:46

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Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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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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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Related Experiment Video

Updated: Feb 19, 2026

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
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DNA Methylation-Based Risk Stratification and Classification of Pediatric Thyroid Carcinoma.

Jenny Z Li1, Julio Ricarte Filho2, Amber R Isaza2

  • 1Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|February 17, 2026
PubMed
Summary

DNA methylation profiling accurately predicts invasiveness and driver mutations in pediatric thyroid cancer. This epigenetic approach aids in risk stratification, potentially reducing unnecessary surgeries and improving patient outcomes.

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Area of Science:

  • Oncology
  • Epigenetics
  • Pediatric Medicine

Background:

  • Accurate invasiveness assessment in pediatric thyroid carcinomas is crucial for surgical decision-making.
  • DNA methylation serves as a molecular biomarker for cancer classification and risk stratification.

Purpose of the Study:

  • To identify epigenetic hallmarks of pediatric thyroid carcinomas.
  • To evaluate DNA methylome profiling for pre-operative risk stratification in pediatric thyroid cancer.

Main Methods:

  • Genome-wide DNA methylation profiles were analyzed from two independent cohorts of pediatric thyroid carcinoma.
  • Classifiers were trained to predict tumor invasiveness (nodal metastasis) and oncogenic drivers using methylation data.

Main Results:

  • Distinct methylation patterns correlated with tumor invasiveness and key driver mutations (BRAF, RAS, kinase fusions, DICER1).
  • Differentially methylated regions implicated AR, Hippo, and AP-1 signaling pathways.
  • Developed and validated methylation-based classifiers accurately predicted invasiveness and mutation subgroups.

Conclusions:

  • DNA methylation assays effectively predict tumor invasiveness and driver mutations in pediatric thyroid carcinoma.
  • Epigenetic profiling offers clinical value for risk stratification and classification of these cancers.