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

Cancer type:

Breast cancer

Status:

Results

Phase:

Other

This study was trying to find out how the environment and genetic makeup can change genes (epigenetics) in ways that increase the risk of getting breast cancer. 

There are many factors that may increase the risk of getting breast cancer. In this study, researchers tried to learn more about the gene changes that increase the risk of getting cancer. 

They also looked at the diet and other lifestyle factors that may cause changes to the genes.

More about this trial

Breast cancer can start when genes change and begin to behave abnormally. Different things (such as diet and lifestyle factors) can modify genes. When a gene is modified, it can affect the way it behaves. And this changes how a cell looks and acts. 

This process is called epigenetics Open a glossary item. Researchers think that certain key epigenetic changes can make normal cells turn into cancer cells. 

The aim of this study was to find out which epigenetic changes in normal cells are linked to the risk of breast cancer and how this happens.  

The researchers wanted to find out which changes related to breast cancer are affected by diet, lifestyle and genetic makeup.  

Summary of results

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 Open a glossary item

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:

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 Open a glossary item 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 Open a glossary item) 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

Recruitment start:

Recruitment end:

How to join a clinical trial

Please note: In order to join a trial you will need to discuss it with your doctor, unless otherwise specified.

Please note - unless we state otherwise in the summary, you need to talk to your doctor about joining a trial.

Chief Investigator

Professor Paul Haggarty
Professor Steven Heys 

Supported by

Breast Cancer Campaign
Fraserburgh Breast Cancer Charity

Questions about cancer? Contact our information nurses

Freephone 0808 800 4040

Last review date

CRUK internal database number:

3510

Please note - unless we state otherwise in the summary, you need to talk to your doctor about joining a trial.

Deborah wanted to help other breast cancer patients in the future

A picture of Deborah

“Deborah agreed to take part in a trial as she was keen to help other cancer patients in the future. "If taking part in a trial means others might be helped then I’m very happy with that."

Last reviewed:

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