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Aberrant genome-wide DNA methylation patterns is common in cancers. Understanding how these affect the transcriptome can provide insights into subtype specific development and progression of tumorigenesis. In this study we carried out genome-wide analysis of DNA methylation and gene expression profiles in TCGA-BRCA breast cancer samples to propose a novel set of 35 methylation-based prognostic markers that may provide insights to molecular subtype specific disease stratification. Gene-set enrichment and pathway analysis of the predicted markers using MSigDB and DAVID revealed their role in mammary gland development pathway, various signaling pathways (ERBB2, NOTCH, etc.), and other cancer pathways, and show clear association with genes affected by hormone receptor status. We further show the discriminative power of the proposed DNA methylation signature in classifying breast cancer samples into three molecular subtypes, viz., Luminal, HER2-enriched and Triple Negative. An accuracy of 94.12% and MCC of 0.87 is obtained in stratified 5-fold cross-validation for the three-class classification using SVM-RBF.

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DNA Methylation Based Subtype Classification of Breast Cancer

  • 会议论文

  • 发表日期：

    2025年

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  • Sri Lakshmi Bhavani Pagolu,
  • S. Suba,
  • Nita Parekh

摘要

Aberrant genome-wide DNA methylation patterns is common in cancers. Understanding how these affect the transcriptome can provide insights into subtype specific development and progression of tumorigenesis. In this study we carried out genome-wide analysis of DNA methylation and gene expression profiles in TCGA-BRCA breast cancer samples to propose a novel set of 35 methylation-based prognostic markers that may provide insights to molecular subtype specific disease stratification. Gene-set enrichment and pathway analysis of the predicted markers using MSigDB and DAVID revealed their role in mammary gland development pathway, various signaling pathways (ERBB2, NOTCH, etc.), and other cancer pathways, and show clear association with genes affected by hormone receptor status. We further show the discriminative power of the proposed DNA methylation signature in classifying breast cancer samples into three molecular subtypes, viz., Luminal, HER2-enriched and Triple Negative. An accuracy of 94.12% and MCC of 0.87 is obtained in stratified 5-fold cross-validation for the three-class classification using SVM-RBF.