New Study: Personalised Approach To Breast Cancer Risk Assessment

A new study, published in the British Journal of Cancer and featured by the BBC, suggests that current breast cancer risk assessment criteria may miss many women under the age of 50 who are at increased risk of developing breast cancer.

Researchers found that current NHS referral criteria, which rely heavily on family history, identify only a small proportion of younger women who will go on to develop the disease. By using a more comprehensive risk assessment that combines genetic, lifestyle and reproductive factors, they were able to identify many more women at higher risk.

At Prevent Breast Cancer, we welcome these findings. They add to the growing evidence that a more personalised approach to breast cancer risk assessment could help identify women who may benefit from screening from a younger age and preventative interventions.

The new study reaches a similar conclusion. Researchers found that around three-quarters of women under 50 who developed breast cancer had no family history of the disease, meaning they would not have been identified through current referral criteria.

Current NHS guidance recommends enhanced assessment for women with a strong family history of breast cancer. While inherited gene mutations such as BRCA1 and BRCA2 are important risk factors, they account for only a small proportion of breast cancer cases.

Most women who develop breast cancer have no known family history of the disease.

To investigate whether more women at increased risk could be identified, the researchers used the BOADICEA risk assessment model. BOADICEA combines information including family history, reproductive history, lifestyle factors and genetic information to estimate an individual’s likelihood of developing breast cancer.

Using this more comprehensive approach, the researchers identified substantially more women who went on to develop breast cancer than current NHS referral criteria based primarily on family history alone.

Professor Sacha Howell said:

This study confirms what we have known for a long time and perhaps shouldn’t surprise us. The NICE familial breast cancer guidelines are just that, ‘familial’, which means those women who have a family history, and a strong one at that. This is because the guidelines were developed 20 years ago and were primarily used to identify women who might carry mutations in BRCA1 and 2, which had recently been identified.

We have always known that the majority of women with breast cancer do not have a family history. For many years, there was not much we could do to identify women at increased risk. Now, however, we have a comprehensive risk assessment that is accurate enough to make a difference.

This study adds to our own PROCAS and BCAN-RAY studies, as well as other research in this field, and strengthens the case for implementing a more comprehensive approach to risk assessment, alongside further research to understand how best to deliver it.

These findings build on more than a decade of research that Prevent Breast Cancer has helped pioneer, advancing a more personalised approach to breast screening that combines information such as family history, inherited gene mutations, polygenic risk scores (PRS), breast density, and established clinical risk assessment tools.

Our PROCAS 1 and PROCAS 2 studies demonstrated that combining multiple risk factors provides a much more accurate assessment of breast cancer risk than using family history or age alone.

Building on this work, we continue to support the advancement of personalised breast screening through our involvement in the BCANRAY study in Manchester and the Europe-wide MyPEBS trial. These studies are helping shape the future of breast screening by investigating how personalised risk assessment can be introduced safely and effectively into routine healthcare.

Identifying women at increased risk is only the first step. To realise the full potential of personalised prevention, women also need clear information and personalised support to help them understand their options and decide which preventative approaches are right for them.

Prevent Breast Cancer is supporting this next stage of the prevention pathway through another research project led by the lead researcher in this study, Dr Juliet Usher-Smith. Her Prevent Breast Cancer-funded project is exploring how telehealth can support women at increased risk of breast cancer in understanding their risk and making informed decisions about risk-reducing medication.

Depending on an individual’s level of risk, preventative options may include risk-reducing medication, surgery, support to make lifestyle changes or more frequent screening. Providing women with clear, personalised information is essential to helping them make decisions that are right for them.

This latest study adds to the growing evidence that breast cancer risk cannot be accurately understood through family history alone. A more comprehensive approach, which considers the full range of factors that influence an individual’s risk, could help identify more women who may benefit from earlier screening and preventative support.

For Prevent Breast Cancer, this research reinforces the importance of identifying risk earlier and ensuring women receive the right support at the right time. By improving our ability to predict and prevent breast cancer, we can move closer to a future where fewer women develop the disease.