Characterisation of DNA methylation changes in EBF3 and TBC1D16 associated with tumour progression and metastasis in multiple cancer types

Background: Characteristic DNA methylation differences have been identified between primary and metastatic melanomas at EBF3 and/or TBC1D16 gene loci. To further evaluate whether these epigenetic changes may act more generally as drivers of tumour onset and metastasis, we have investigated DNA methylation changes involving EBF3 and TBC1D16 in additional publicly available data of multiple different tumour types.

Results: Promoter hypermethylation and gene body hypomethylation of EBF3 were observed in a number of metastatic tumour types, when compared to normal or primary tumour tissues, as well as in tumour vs normal tissues and in a colorectal primary/metastasis pair, although not all tumour samples or primary/metastasis cancer pairs exhibited altered patterns of EBF3 methylation. In addition, hypomethylation of TBC1D16 was observed in multiple tumours, including a breast cancer primary/metastasis pair, and to a lesser degree in melanoma, although again not all tumours or cancer primary/metastasis pairs exhibited altered patterns of methylation.

Conclusions: These findings suggest characteristic DNA methylation changes in EBF3 and TBC1D16 are relatively common tumour-associated epigenetic events in multiple tumour types, which is consistent with a potential role as more general drivers of tumour progression.