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Related Concept Videos

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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Updated: May 7, 2025

Methyl-binding DNA capture Sequencing for Patient Tissues
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Evaluating DNA Methylation in Random Fine Needle Aspirates from the Breast to Inform Cancer Risk.

Kala Visvanathan1,2, Ashley Cimino-Mathews3, Mary Jo Fackler2

  • 1Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

The Breast Journal
|January 1, 2025
PubMed
Summary

DNA methylation in random fine needle aspirates (rFNA) cannot reliably detect breast cancer risk. Methylation levels in random samples did not accurately identify premalignant lesions or at-risk tissue, indicating a need for improved diagnostic strategies.

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Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • DNA hypermethylation silences critical regulatory genes in breast cancer and premalignant lesions.
  • Assessing DNA methylation in random fine needle aspirates (rFNA) is a potential method for breast cancer risk stratification.

Purpose of the Study:

  • To evaluate if DNA methylation detected via rFNA can effectively inform breast cancer risk assessment.
  • To determine the diagnostic accuracy of methylation analysis in rFNA for identifying premalignant lesions and at-risk breast tissue.

Main Methods:

  • Invasive breast cancer patients underwent rFNA of tumors, adjacent normal tissues, and surrounding quadrants.
  • Cumulative methylation index (CMI) for 12 genes was assessed using quantitative methylation-specific PCR (QM-MSP) in 280 aspirates.
  • Pathology review identified incidental premalignant lesions; statistical tests compared CMI across different tissue types and patient groups.

Main Results:

  • High DNA methylation levels (median CMI=252) were detected in tumor aspirates.
  • Adjacent normal tissue and other quadrants showed significantly lower methylation (median CMI=11 and CMI=2, respectively).
  • Methylation levels in rFNA did not significantly correlate with the presence of incidentally found premalignant lesions.

Conclusions:

  • rFNA-based DNA methylation analysis has poor diagnostic accuracy for detecting premalignant lesions or at-risk quadrants.
  • This method is not currently suitable for evaluating individual breast cancer risk.
  • Further research is needed to develop more targeted and accurate approaches for methylation-based breast cancer risk assessment.