Research into preventing and diagnosing breast cancer

There is a lot of research into preventing breast cancer. You can find detailed information about breast cancer prevention trials on our clinical trials database. Go to the advanced search and choose ‘breast’ from the dropdown menu of cancer types and choose 'prevention' from the type of trial dropdown list.

Researchers are looking at 

• Diet and lifestyle
• Women with a high risk of breast cancer
• Hormone therapies

Diet and lifestyle

Some studies are looking at how diet and lifestyle factors (such as alcohol) may change genes in ways that could lead to breast cancer.

Women with a high risk of breast cancer

Research continues into trying to prevent breast cancer in women who have a faulty gene that increases their risk. Doctors have looked into using tamoxifen or other hormone blocking drugs such as anastrozole (Arimidex) to lower the risk of breast cancer in women with a strong family history.

Hormone therapies

Some trials have shown that taking tamoxifen reduces breast cancer risk by about a third in high risk women. That means for every 100 cases of breast cancer expected, there were only about 62 cases in women taking tamoxifen. Although this finding is very positive we need to be sure that taking tamoxifen improves survival for these women and that side effects do not significantly reduce women's quality of life.  

The TAM-Prev trial aims to find out how many premenopausal women who have a high risk of developing breast cancer would consider using tamoxifen to prevent it. The researchers have developed a tool, called a Decision Aid, that explains the benefits and risks of taking tamoxifen. They want to see if it can help women decide if they want to use tamoxifen or not. The researchers also want to see if a substance in the blood called a biomarker can help to find out which women may benefit from having tamoxifen.

A major trial called IBIS II is looking at another hormone drug called anastrozole. The researchers are seeing if it can prevent breast cancer in women at high risk of developing it. Anastrozole (Arimidex) is a drug that stops oestrogen being made in the fatty tissues of the body. Oestrogen can stimulate breast cancer cells to grow. Anastrozole is usually used to treat post menopausal women who've had breast cancer, to help stop the cancer from coming back. This trial is trying anastrozole to stop oestrogen production because that may help to prevent breast cancer. 

In 2009 the American Society of Clinical Oncology (ASC0) stated that tamoxifen may be offered for 5 years to premenopausal women at increased risk of breast cancer, as it reduces their risk for at least 10 years. In postmenopausal women, raloxifene for five years may be used instead of tamoxifen as the 2 drugs work equally well in women who have had their menopause. 

ASCO guidelines recommend that aromatase inhibitors or other drugs similar to tamoxifen (selective oestrogen receptor modulators) should only be used as part of clinical trials to reduce breast cancer risk. Although tamoxifen and raloxifene reduce breast cancer risk in women at high risk, it is not clear whether this reduces breast cancer deaths. Research is continuing to try to find this out.

There are many factors that may increase the risk of getting breast cancer. Researchers are trying to find out whether foods in our diet or factors such as drinking alcohol may change genes in ways that could lead to breast cancer. There is a study looking at the possible links between diet, lifestyle and breast cancer. In this study, the researchers hope to learn more about how risk factors such as diet and drinking alcohol affect genes.

Research is always looking into family history and possible causes of breast cancer. We have found two important gene faults for breast cancer – BRCA 1 and BRCA 2. But these faulty genes only cause a relatively small number of breast cancers. Specialists think there are lots more genes that don’t carry such a high risk, but are probably carried by more people.

Scientists identified another faulty gene called CHEK 2, in 2004. They named this the first low risk cancer gene. In the general population, a faulty CHEK2 gene is rare. But we now know it is much more common in women with cancer in both breasts (bilateral breast cancer). Research has since found that about 2 out of every 100 women with breast cancer in both breasts (bilateral breast cancer) have the CHEK2 gene fault. The scientists think that this means that CHEK2 is interacting with other breast cancer gene faults in these women and giving them a very high risk of breast cancer. They have worked out that women who have close relatives with bilateral breast cancer and the faulty CHEK2 gene have a 1 in 2 risk of getting breast cancer themselves by the age of 80.

As there are only about 2,000 cases of bilateral breast cancer diagnosed each year in the UK, it should be possible to screen these women and find out if they carry the CHEK2 gene fault. If they do, this may mean we can identify other women in their families who have this high risk of breast cancer. Male relatives of women with bilateral breast cancer and a faulty CHEK2 gene also have a higher than average risk of developing prostate cancer.

In women who don’t carry a faulty BRCA2 gene, scientists have found another gene, called EMSY, which switches off the normal BRCA2 and allows breast cancer to develop.

In the future, all these discoveries could lead to new ways of preventing or treating breast cancer. Researchers and doctors are creating a register of families in the UK with a history of breast cancer, with a database of blood samples. In the future, they hope that collecting all this information about the genetic make up of these families will help them identify other genes involved.

A charity called Breakthrough Breast Cancer is running a study called the Generations Study. The aim is to try to find out more about the causes of breast cancer. This includes trying to find out about genes that cause breast cancer. The study will include over 100,000 women. Women living in the UK who are over 18 years old can volunteer to take part. If you take part, you fill in a questionnaire about factors that can increase your risk of developing breast cancer. You also have a blood sample taken. The researchers will use this blood sample to look for any genes and hormonal factors that may influence your risk of developing breast cancer. You can read about the study on the Breakthrough Breast Cancer website.

Our clinical trials database has details of studies trying to find out more about how gene changes can affect breast cancer risk. Choose 'breast' from the dropdown list of cancer types and type 'gene' into the free text search box. Tick the boxes for closed trials and trial results if you want to see all the trials.

Stem cells are undeveloped (immature) cells which are able to become any type of cell in the body. The body uses stem cells to replace damaged or old cells. We know from research that some stem cells in the breast may be involved in the start of certain breast diseases. The ABSCS study is looking at samples of breast stem cells from people without cancer and people with different stages of breast cancer. If researchers can understand more about how stem cells in the breast work, they may be able to develop new treatments in the future.

The breast cancer screening service includes women between the ages of 50 and 70 in the UK. This is being expanded from 47 to 73 years. If you are between these ages, you automatically receive an invitation to go for breast screening every 3 years. Research is looking at newer and more accurate tests for picking up breast cancer in women with no symptoms (screening) and in women who have suspicious symptoms. There is information below about

• Breast screening in younger women
• Blood tests and breast screening
• Intraductal screening
• Digital mammogram
• Using computers to read mammograms
• Digital breast tomosynthesis
• Thermography
• Newer types of scans
• Phyllodes tumour
• Optical biopsy

The UK breast screening programme uses mammograms to screen women every 3 years. Women with a strong family history of breast cancer may start having mammograms earlier than age 47. You may have mammograms more often – for example, yearly. The FH-01 trial looked into yearly screening for women between 40 and 49 who were thought to be at  high risk of breast cancer. It found that the yearly mammograms found cancers at an earlier stage and that it did help to save lives.

The FH-02 trial is being done to see if yearly mammograms can help save the lives of women aged 35 to 39 who are at an increased risk of developing cancer.

Studies are looking at how to determine each woman's risk of breast cancer and seeing whether blood tests are helpful in breast screening.

Finding each woman's risk of breast cancer

The PROCAS study is collecting information from women taking part in the NHS breast screening programme in Greater Manchester. The chance of getting breast cancer is not the same for all women. Some have a higher risk and some have a much lower risk. Researchers in this study hope to be able to accurately work out each woman’s risk of breast cancer. Then in the future each woman could be given appropriate advice on how to reduce their risk. Women at higher risk could perhaps be offered screening more often, and closer monitoring. 

Blood tests

Some women who are screened for breast cancer using mammograms are called back for further tests. This can be very worrying, but most of them will turn out not to have cancer. Doctors are trying to develop a new blood test so that fewer women are called back unnecessarily. Some studies are checking for particular proteins or other substances in the blood of women called back after abnormalities are found on their mammogram. 

You can find details of trials looking at breast cancer detection on our clinical trials database. Go to the advanced clinical trials search and choose 'breast' from the dropdown menu of cancer types and 'screening' from the dropdown menu of trial types.

Doctors want to find out whether there are changes in the immune system in women with early breast cancer. If there are immune system reactions that could be picked up somehow, they may one day help doctors find breast cancer at an earlier stage. There is a research study looking for antibodies and white blood cells called T cells in women with or without breast cancer. Antibodies and white blood cells are part of the immune system. The main aim of this study is to find new signs (markers) in the blood of women with breast cancer. The markers could one day be tested for to help doctors screen for and diagnose breast cancer.

Intraductal screening is a new way of picking up breast cancer. Tests being researched include

• Nipple aspiration
• Intraductal lavage
• Duct endoscopy. 

Nipple aspiration

The nipple aspiration test gets samples of breast fluid from the milk ducts. The fluid in the ducts is in direct contact with the cells lining the breast ducts and lobules. This lining is a common area for breast cancer to develop. The doctor or nurse takes fluid from the nipple using a similar pump to the one used to express milk when breast feeding.

Intraductal lavage

For an intraductal lavage the doctor puts some anaesthetic on your nipple and then puts a very thin tube into one of the milk ducts of the breast. They put some saline (salt water) fluid into the tube and then take it out again with a syringe. The fluid washes around the duct and contains some of the cells that line the ducts.

Duct endoscopy

If you have a duct endoscopy the doctor puts some anaesthetic cream on your nipple and then puts a very fine flexible tube with a light and magnifying lens into a breast duct. The doctor can look at the cells and also take samples of fluid.

Trials are looking into how reliable these types of intraductal screening might be in picking up DCIS or breast cancer or whether it could help to decide a woman's risk of developing breast cancer in the future. These trials are listed on our clinical trials database. Go to the advanced clinical trials search and choose 'breast' from the drop down list of cancer types and 'tests for diagnosis' from the trial type dropdown list.

Most mammograms in the NHS breast screening programme are checked by two specialist readers. It is more accurate if there are two professional opinions instead of one. But there is a great deal of strain on the system and this will increase as women up to 70 are included in the screening programme.

Researchers have looked at using a computerised reader. This system is called computer aided detection (CAD). The CADET 2 trial used CAD and one specialist to read mammograms for more than 28,000 women. It found that it is as accurate as using two specialist readers. So now the NHS breast screening programme is looking at how CAD can be used as part of the screening programme in the UK.

Tomosynthesis is a new way of taking X-rays. A scanner produces a series of X-rays at different angles over a 30 degree arc. This increases the range of angles at which X-rays hit the breast tissue and gives more information about the breast tissue and a clearer picture. A computer creates a 3 dimensional (3D) image of the breast.

Some UK hospitals are trying tomosynthesis. The aim of the TOMMY trial is to compare the accuracy of tomosynthesis and standard mammograms when diagnosing breast changes found during screening. A study in Dundee is also comparing digital breast tomosynthesis with standard mammograms in women under 60 years of age.

Thermography is also called digital infrared imaging. The theory is that the area around a cancer is warmer than the surrounding breast tissue. This is because cancer cells are more active than normal cells and produce more heat. The hotter areas can be seen on a scanner that shows differences in temperature. This test is still very experimental and so not available as a screening test. Some people call them thermal scans.

Researchers are using various types of scans to try to improve the detection and monitoring of breast cancer. They include 

• MRI scans
• Fusion breast MRI ultrasound
• Positron Emission Tomography

MRI scans

Magnetic resonance imaging (MRI) is a way of diagnosing cancer that uses magnetic waves to give a picture. Doctors are still trying to find out which tests are most useful for diagnosing breast cancer. A trial called COMICE added MRI to standard breast cancer diagnosis tests – mammogram, biopsy and breast ultrasound. The researchers wanted to see whether adding in MRI could show the size of the tumour more accurately and reduce the number of women who need further operations after their surgery. 

The researchers found that adding in MRI did not reduce the number of women needing further operations. So, they recommended that MRI is not added to routine diagnostic testing for women with invasive ductal breast cancer. But MRI can often accurately show the size of the cancer for women with invasive lobular cancer and so is usually used for these women when planning surgery. It is also helpful if women have had breast implants.   

Fusion breast MRI ultrasound

Fusion scans combine MRI and ultrasound. Researchers are looking at whether they may be able to show areas of breast cancer more clearly than MRI on its own. These scans are only used as part of research trials.

Positron Emission Mammography (PEM)

With a PEM scan you first have an injection of a very small amount of a radioactive drug (tracer). The amount of radiation is very small – no more than you have during a normal X-ray. It only stays in the body for a few hours. The drug is taken up by cancer cells but also areas of inflammation. Doctors think that it may be very helpful in finding areas of DCIS.

Scientists are investigating a new test which uses light to find cancer cells in breast tissue. This is done either during a biopsy, or on breast tissue removed in surgery. The test is called elastic scattering spectroscopy (ESS). Doctors hope that they will be able to use this test directly on the breast to diagnose cancer much quicker.

Image guided radiofrequency biopsy of breast lumps is a new type of biopsy being researched. It aims to take a biopsy of an abnormal area of the breast through a small cut. Doctors carry it out under local anaesthetic. Using X-ray or ultrasound guidance they put a small probe close to the abnormal area. The probe cuts using radio waves and removes the tissue. A small cage attached to the probe holds the tissue. This way of doing a biopsy aims to cause less bleeding and swelling than a normal biopsy.

In August 2009 the National Institute for Health and Clinical Excellence (NICE) recommended that there is not currently enough evidence about the safety of this procedure and they are concerned that it may not always show a cancer when one is present. So, NICE recommends that this procedure should only be used to remove cancer that has been diagnosed using other tests and there are no other surgical options. NICE also recommends that more research is carried out into image guided radiofrequency biopsy of breast lumps.

Scientists are trying to find out more about a rare type of breast tumour called Phyllodes. There is a study to find out which genes might be involved in the development of these tumours, and also why some come back after treatment. There is information about the Phyllodes study on our clinical trials database.

Coeliac disease is a disease of the small bowel. People with coeliac disease have an immune or allergic reaction to gluten, a protein found in rye, wheat and barley. This causes inflammation, which over time can damage the lining of the small bowel. This makes it difficult for the bowel to absorb the nutrients we need from our food. People with coeliac disease have to stick to a gluten free diet.

Some research suggests that people with coeliac disease have a lower risk of getting breast cancer. A research team looked into why this is the case. It reported in 2012 that women with coeliac disease had some factors that increased their risk of breast cancer and some factors that decreased their risk of breast cancer. They suggest that the reduced risk of breast cancer is related to menstrual and reproductive factors. You can read about the results of the coeliac disease and breast cancer study on our clinical trials database.