Studies of chromosomes and epigenetic effects are yielding new understanding of cancer types and suggesting potential prevention and new treatments.

Many compounds associated with cancer cause damage through epigenetic processes. These include tobacco smoke and alcohol, but a host of other less obvious and more subtle epigenetic effects contribute to cancers. Changes to DNA caused by epigenetic mechanisms play such a key role in some cancers that scientists are exploring targeting the proteins responsible for these mechanism in potential treatments.

Tumour cells often have chromosomes with unusual structures, not seen in healthy cells. Scientists have been exploring whether these structural changes might actually cause some cancers, and not just be the effect of cancerous changes to DNA.

Scientists study epigenetic modifications using DNA sequencing-techniques, which generate large amounts of data. Laboratories worldwide upload their data to centralised databases which make them available across the scientific community. This helps researchers in planning experiments as well as analysing and interpreting their data. EMBL’s European Bioinformatics Institute (EMBL-EBI) contributes to the maintenance and management of widely used databases such as ENSEMBL and actively participates in the ENCODE project.

Epigenetic modifications to our chromosomes that are based on environmental influences may be passed to our offspring. They form part of how organisms adapt to their environment and evolve. Researchers found that keeping plants in cold conditions induced epigenetic modifications which switched off genes. These modifications were passed on to the plant’s offspring and helped them survive cold conditions. So epigenetic factors are inherited and evolve across generations, and also impact the evolution of DNA over time.

Epigenetic changes to human chromosomes raise the risk of a wide range of diseases. Factors driving these changes may be environmental (pollution); societal (lack of access to healthy food or movement); or personal choices (smoking or alcohol consum). Epigenetic changes such as some related to obesity and diabetes, may be passed on to the next generation. This means that the health of future generations may be impaired by circumstances for which they bear no responsibility.