Methylation Signatures as Cancer Biomarkers

May 25, 2022

What is DNA Methylation?

Perhaps even more important than being able to express genes at the correct times is the ability of a cell to suppress expression of unwanted genes. One of the primary mechanisms for repression of gene expression is DNA methylation, where methyl groups are added to C and G-rich segments of DNA in gene promoters (called CpG sites or CpG islands).

The “methylome” is thus highly conserved between different cell types, depending on their required transcriptome for normal function, however it remains relatively poorly characterized in spite of the large potential for epigenetic information to uncover new information about disease states like cancer.

Identifying Methylation Signatures in Cancer

As will most molecular processes in cancer cells, methylation can be disturbed by the cancer cells themselves and the tumor microenvironment. Methylation can be specifically removed to allow expression of pro-growth and anti-inflammatory genes, as well as a general dysregulation of epigenetic dynamics occurring.

These disruptions to the cancer cell methylome provide another opportunity for a target for biomarker development, where methylation changes could potentially provide knowledge about the prognosis or behavior of a given tumor.

A recent study by researchers from the Moffitt Cancer Center introduces a new concept called tumor-based expression quantitative trait methylation (eQTM) to identify and prioritize predictive tumor biomarkers. Using a melanoma model, eQTMs were able to identify both immune status and immunoregulation of the tumor, as well as prognostic markers, introducing a new class of potential biomarkers to the bioinformatics space.

Outsourcing Bioinformatics Analysis

This study illustrates the potential of methylation data, but working with this data type is a challenging computational and bioinformatic task. Outsourcing your bioinformatic analysis to experts like our team at Bridge Informatics helps eliminate common challenges with these projects. If you’re interested, book a free discovery call with us today to discuss your project needs.

Jane Cook, Journalist & Content Writer, Bridge Informatics

Jane is a Content Writer at Bridge Informatics, a professional services firm that helps biotech customers implement advanced techniques in management and analysis of genomic data. Bridge Informatics focuses on data mining, machine learning, and various bioinformatic techniques to discover biomarkers and companion diagnostics. If you’re interested in reaching out, please email or


DNA illustration

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