Methylation of promotor CpG islands is frequently associated with transcriptional silencing and may serve as a mechanism to inactivate tumor suppressor genes in breast cancer. We hypothesize that DFNA5 promotor methylation may be a valuable epigenetic biomarker, based upon strong indications for its role as tumor suppressor gene, its function in programmed cell death and its potential role as biomarker in cancer.
In this study we analyzed DFNA5 methylation in a high number of samples using publicly available data from TCGA. Infinium HumanMethylation450k data, covering 22 different CpGs in the DFNA5 gene, from 668 female breast adenocarcinoma samples and 79 paired normal breast samples were obtained. Agilent 244K Custom Gene Expression data were obtained for 476 female breast adenocarcinoma samples and 55 paired normal breast samples.
A significant difference in DFNA5 methylation (N = 79) between primary tumor and paired normal breast samples was found for all 22 CpGs (p
These preliminary data suggest a promising role of DFNA5 in breast cancer. In addition, this analysis shows the power of initiatives such as TCGA, providing data for large sample numbers, for the analysis of individual genes involved in cancer.
Clinical trial identification
Legal entity responsible for the study
University of Antwerp
FWO, University of Antwerp
All authors have declared no conflicts of interest.