A study looking at genes and how they can affect breast cancer

The study team found 2 genes that are related to the risk of getting breast cancer. They also concluded that the epigenetic changes found on these genes did not change with age, weight or height. 

Researchers collected information and blood samples from 2172 women attending the Aberdeen breast clinic:

• 1168 women with breast cancer and early breast cancer
• 1004 women who did not have cancer (the control group ) 

Every woman had blood samples taken at the time of diagnosis and before the start of any treatment for their breast cancer.

People with the following were excluded as they have a high risk of breast cancer:

• changes in the BRCA1 gene (or family members with this)
• family history of breast cancer
• benign breast disease (atypical ductal hyperplasia) 
• lobular carcinoma in situ (LCIS) 
• Hodgkin lymphoma (also called Hodgkin’s disease)

This study looked at different epigenetic processes, diet, lifestyle and life history factors. Doctors looked at these in smaller studies (sub-studies).

Below are the findings so far from 1 of the sub-studies. Researchers called this the early life influences sub study. 

The early life influences sub study
This sub study tried to find out which factors, such as birth weight, can increase the risk of a woman developing breast cancer.    

Some important epigenetic changes can happen even before the birth. These changed genes stay in different organs or tissues during life. Doctors think this is why early life factors can influence the risk of getting cancer. 

In this study, doctors looked at the changes in 7 genes. To do this, they looked at the samples of: 

• 189 women with the most common type of breast cancer - invasive ductal carcinoma (DIC)
• 41 women with breast cancer in situ (also called ductal carcinoma in situ or DCIS)
• 363 women who did not have cancer

Researchers found 2 genes (PEG3 and KvDMR-ICR2) that were related to the risk of cancer. They also concluded that the epigenetic changes found on these genes did not change with age, weight or height. 

Researchers think these findings have helped them to understand the causes of breast cancer. And how early life factors can increase the risk of getting breast cancer. 

They think these 2 epigenetic changes can be used as biomarkers to help to develop new screening tests and treatments for women with breast cancer, or those at risk of developing it.   

Doctors are still looking into the way early life factors influence the epigenetic changes. They are also looking into the effects of diet and lifestyle and how these may influence the risk of developing breast cancer.  

We have based this summary on information from the research team. The information they sent us has been reviewed by independent specialists (peer reviewed ) and published in a medical journal. The figures we quote above were provided by the trial team who did the research. We have not analysed the data ourselves