Bring a multiomic approach to your cancer research
Understanding both genetics and DNA methylation can provide valuable insight into the dynamic state of a cancer cell.
In healthy cells, DNA methylation regulates gene expression, ensuring genes are turned on or off when needed. But in cancer, abnormal DNA methylation patterns emerge, affecting the expression of tumour suppressor genes and oncogenes, and which correlate with changes to DNA repair processes, immune responses, and genomic stability.
Changes in DNA methylation patterns are among the earliest alterations observed in cancer cells, making them useful as biomarkers for early detection, prognosis, and monitoring of cancer treatment response.
Teach me in 10: revealing the combinatorial power of genetic and epigenetic information for early cancer detection
In this Teach me in 10 episode we will explore how simultaneous sequencing of genetic and epigenetic bases in cfDNA allows for early cancer detection.
It is becoming increasingly apparent in many areas of research that genetics does not tell the full story of how cancer appears and develops. This highlights the importance of capturing both genetics and epigenetics to fully understand cancer biology to get the complete picture and full range of causality in this complex condition. Here are some examples.
Genetic mutations are responsible for about 30% of the inherited risk for prostate cancer. In comparison, DNA methylation alterations and shifts in gene expression each play equally significant roles, collectively accounting for the remaining risk and contributing evenly to the mechanisms that lead to prostate cancer.
Key developmental genes are implicated in colorectal tumour growth due to variations in chromatin accessibility, with subsequent epigenetic modifications influencing the accumulation rate of genetic mutations. These genetic and epigenetic alterations co-develop, and so both are fundamentally important to understanding the progression of the disease.
Research has demonstrated that in breast cancer patients, mutations and DNA methylation changes at the BRCA1 gene both contribute to the condition, with the methylation status serving as a predictor for the efficacy of specific treatments. Understanding the interactions between genetic and epigenetic alterations not only sheds light on cancer progression but also uncovers critical insights into treatment strategies.
The term variant-associated methylation (VAM) can be used to describe the direct association of genetic variation with changes in DNA methylation – either in close proximity or across large genomic distances. VAM directly links genetic sequence information with 5mC and 5hmC methylation data to better understand the dynamic interactions that are occurring in a cancer cell.
By mapping both genetic variants and methylation status simultaneously on the same DNA molecule, valuable insight can be gained on how genetic differences influence methylation patterns and how this affects gene expression in the cancer cell.
- Epigenomic and genomic information on the same DNA fragment from a single low-input sample in one workflow
- Distinguish 5mC and 5hmC and variant-associated methylation without data loss
- High sensitivity and specificity for SNP detection especially C-to-T mutations
- More information from a single workflow with a low sample input requirement (5ng DNA)
"Having a one-shot method that allows reading of modified cytosine bases and simultaneous measurement of genomic mutations is going to be a game-changer for us"
Dr Sam Aparicio, Chair of Molecular Oncology, BCCRC
Map all the genetic and epigenetic interactions involved in the initiation and progression of cancer with the duet multiomics solution evoC. Access the 6-base genome – all 4 canonical bases, and distinguish 5mC and 5hmC from a single 5ng DNA sample, in a single experiment, with high accuracy.
We can help you reveal new data and multimodal insights from your research.