Promoter hypermethylation in male breast cancer: Analysis by multiplex ligation-dependent probe amplification

Robert Kornegoor, Cathy B. Moelans, Anoek H J Verschuur-Maes, Marieke C H Hogenes, Peter C. de Bruin, Joost J. Oudejans, Paul J. van Diest

Research output: Contribution to journalArticlepeer-review


Introduction: Epigenetic events are along with genetic alteration important in the development and progression of cancer. Promoter hypermethylation causes gene silencing and is thought to be an early event in carcinogenesis. The role of promoter hypermethylation in male breast cancer has not been studied yet. Methods: In a group of 108 male breast cancers, methylation status of 25 genes was studied using methylation specific multiplex ligation-dependent probe amplification. Methylation of more than 15% was regarded indicative for promoter hypermethylation. Methylation status was correlated with clinicopathological features, patients' outcome and with 28 female breast cancer cases. Results: Promoter hypermethylation of the genes MSH6, WT1, PAX5, CDH13, GATA5 and PAX6 was seen in more than 50% of the cases, while uncommon or absent in normal male breast tissue. High overall methylation status was correlated with high grade (p=0.003) and was an independent predictor of poor survival (p=0.048; hazard ratio 2.5). ESR1 and GSTP1 hypermethylation were associated with high mitotic count (p=0.037 and p=0.002, respectively) and high grade (both p=0.001). No correlation with survival was seen for individual genes. Compared to female breast cancers (logistic regression), promoter hypermethylation was less common in a variety of genes, particularly ESR1 (p=0.005), BRCA1 (p=0.010), BRCA2 (p

Original languageEnglish (US)
JournalBreast Cancer Research
StateAccepted/In press - Jul 5 2012
Externally publishedYes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research
  • Medicine(all)


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