Aberrant DNA methylation impacts gene expression and prognosis in breast cancer subtypes

Balázs Györffy, Giulia Bottai, Thomas Fleischer, Gyöngyi Munkácsy, Jan Budczies, Laura Paladini, Anne Lise Børresen-Dale, Vessela N. Kristensen, Libero Santarpia

Research output: Contribution to journalArticlepeer-review

Abstract

DNA methylation has a substantial impact on gene expression, affecting the prognosis of breast cancer (BC) patients dependent on molecular subtypes. In this study, we investigated the prognostic relevance of the expression of genes reported as aberrantly methylated, and the link between gene expression and DNA methylation in BC subtypes. The prognostic value of the expression of 144 aberrantly methylated genes was evaluated in ER+/HER2-, HER2+, and ER-/HER2- molecular BC subtypes, in a meta-analysis of two large transcriptomic cohorts of BC patients (n=1,938 and n=1,640). The correlation between gene expression and DNA methylation in distinct gene regions was also investigated in an independent dataset of 104 BCs. Survival and Pearson correlation analyses were computed for each gene separately. The expression of 48 genes was significantly associated with BC prognosis (p

Original languageEnglish
Pages (from-to)87-97
Number of pages11
JournalInternational Journal of Cancer
Volume138
Issue number1
DOIs
Publication statusPublished - Jan 1 2016

Keywords

  • breast cancer subtypes
  • DNA methylation biomarkers
  • gene expression
  • immune genes
  • prognosis

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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