The Imperial College of London has announced a breakthrough in breast cancer research, detailing findings that reveal a strong connection between molecular, or ‘epigenetic’, changes and the risk of blood cancer, meaning that early detection of the disease could be only a blood test away.

 

The research, published in Cancer Research, involved a study of 640 women with breast cancer and 741 controls.  The research analysed blood samples of the women to find out whether the alteration of single genes by a process called methylation can predict whether women have an increased breast cancer risk.

 

Lead researcher Dr James Flanagan found that the women with the highest level of methylation on one area of a gene called ATM were twice as likely to get breast cancer as women with the lowest level. This result was particularly clear in blood samples taken from women under the age of 60.

 

Importantly, because this is the first study using blood taken on average three years before diagnosis and in some cases up to eleven years, it shows that the genes were not altered because of active cancer in the body or by treatments for cancer, which has been a problem with previous studies that took blood after diagnosis.

 

The findings show strong evidence of a connection between a certain type of epigenetic alteration and the development of breast cancer, in some cases indicators showing up three years before the presentation of symptoms.

 

“We know that genetic variation contributes to a person’s risk of disease. With this new study we can now also say that epigenetic variation, or differences in how genes are modified, also has a role,” Dr Flanagan said.

 

“We hope that this research is just the beginning of our understanding about the epigenetic component of breast cancer risk and in the coming years we hope to find many more examples of genes that contribute to a person’s risk. The challenge will be how to incorporate all of this new information into the computer models that are currently used for individual risk prediction.