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Research into causes and prevention of breast cancer

Find out about the latest UK research into the causes and prevention of breast cancer. 

We know your risk of developing breast cancer depends on many factors, including age, genetics, and exposure to risk factors. Researchers continue to be interested in other reasons why breast cancer develops in some people but not others.


There are 2 inherited gene faults we know can increase the risk of breast cancer – BRCA 1 and BRCA 2. Researchers continue to look at these genes to understand more about the different mutations and how they affect breast cancer risk. Doctors are learning more by creating a register of families who have fault in these genes.

Doctors think there are lots more faulty genes involved. Scientists have identified new faulty genes including the:

  • CHEK2 gene
  • EMSY gene

Researchers are looking at the genes of people with cancer to find out more about possible genetic causes. And they are also studying blood samples from healthy women to look for any genes that may affect breast cancer risk.

The risk of developing breast cancer is higher if you have a family history of the disease. Research has looked at combining information about family history with other tests, to find a more accurate way of working out your breast cancer risk.

A rare type of tumour called Phyllodes tumour can occur in the breast. Researchers have looked at samples of these tumours to try to identify genes involved in their development. And to understand why some of these tumours come back, and some do not.

Diet and physical activity

Researchers are looking at how diet and drinking alcohol affect genes in ways that could lead to breast cancer.

Researchers are also looking at the impact of lifestyle changes for women who are at increased risk of breast cancer. Lifestyle changes include increasing physical activity, diets to lose weight, stopping smoking and reducing alcohol intake.

Stem cells

Stem cells are undeveloped (immature) cells that can become any type of cell in the body.

Researchers are studying breast stem cells from people without cancer, and from people with different stages of breast cancer. They want to understand more about how stem cells are involved in the start of certain breast diseases. Knowing more about how breast stem cells work may also help to develop future treatments.

Drugs to prevent breast cancer

Research has looked at whether drugs could prevent breast cancer in women with an increased risk of the disease.

Trials have looked at hormone therapies including:

  • tamoxifen
  • raloxifene
  • anastrozole (Arimidex)

The results show that these drugs can lower the risk of breast cancer in women at high risk.

The National Institute for Health and Clinical Excellence (NICE) provide guidance for women at higher risk of breast cancer. At the moment they recommend that women at high or moderate risk of breast cancer should talk to their doctor about taking tamoxifen or raloxifene for 5 years, alongside their other options.

But due to side effects, they do not recommend these drugs if you have had a blood clot or are at risk of developing one. So researchers are looking for other drugs to prevent breast cancer which do not have these side effects.

A trial is looking at a drug called Ulipristal acetatete (UA) to see if it helps prevent breast cancer. This drug doesn’t have the same side effects as tamoxifen or raloxifene.

Doctors are also looking at how women decide if they should take medicine to reduce their risk of breast cancer. This will help them support women who are making this decision.

Coeliac disease

Coeliac disease is a disease of the small bowel. Several studies have shown that women with coeliac disease have a reduced risk of breast cancer. A team of researchers looked into why this might be. They concluded that the reduced risk may be related to menstrual and reproductive factors.

Clinical trials

Last reviewed: 
25 Oct 2014
  • Clinical guidelines for the classification and care of women at familial risk of breast cancer
    National Institute for Health and Care Excellence (NICE), October 2006

  • A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer
    P Vahteristo, Ji Bartkova, H Eerola (and others)
    American Journal of Human Genetics, August 2002, Vol.71, Issue 2, Pages 432–438

  • EMSY Links the BRCA2 Pathway to Sporadic Breast and Ovarian Cancer
    L Hughes-Davies, DHuntsman, M Ruas (and others)
    Cell, November 2003, Volume 115, Issue 5,  Pages 523–535

  • A study looking at the reduced risk of breast cancer in women with coeliac disease
    Cancer Research UK clinical trials database January 2012

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