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Oral presentation

Aberrant DNA methylation of CpG sites is among the earliest and most frequent alterations in cancer. Several studies suggest that aberrant methylation occurs in a tumour-type specific manner. However, large scale analysis of candidate genes has so far been hampered by the lack of high-throughput assays for methylation detection.

Epigenomics applies several novel detection technologies combined with sophisticated bioinformatics to exploit the information contained in DNA methylation to improve cancer diagnostics and treatment. The technology portfolio includes genome-wide screening methods for differentially methylated sites, sensitive detection methods, as well as a novel microarray based technique, which allows genome-wide assessment of selected CpG dinucleotides as well as quantification of methylation at each site.

Several hundred CpG sites have been screened so far in all major human cancer types and corresponding healthy controls. Discriminative CpG dinucleotides were identified for different tissue type distinctions and used to predict the tumour class of yet unknown samples with a high accuracy using machine learning techniques. Some CpG dinucleotides correlate with progression to malignancy or different tumour grades whereas others are methylated in a tissue-specific manner independent of malignancy.

Examples of recent studies will be given and major application areas in cancer diagnosis and treatment will be discussed.

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