Genetics and prostate cancer: how understanding our genes could help shape the future of diagnosis

By exploring the role that genetics plays in determining a man's risk of prostate cancer, researchers hope to improve the way the disease is detected and diagnosed in the future.  

As the Senior Trial Manager in the Oncogenetics Team at The Institute of Cancer Research, London, Dr Eva McGrowder is at the forefront of this important work. 

Our Specialist Nurse, Susan Piper, spoke to her about an exciting study called PROFILE – and how understanding genetic risk could help us transform prostate cancer diagnosis for generations to come.

Some men face a higher risk than others

What led you to a career in prostate cancer research? 

I'm a research scientist by training and I completed a PhD in breast cancer research before moving into my current role. One of the things I'm most passionate about is raising awareness of prostate cancer risk and empowering people to have conversations about their health.  

Family history can play an important role in prostate cancer risk, so encouraging men to discuss this with their families – and seek advice when it's needed – is incredibly important. Research also gives us the chance to work closely with communities, and charities like Prostate Cancer UK, to raise awareness and support more people. 

Why do some men face a higher risk of prostate cancer than others? 

We've known for many years that some people face a higher risk than others. Family history is one important factor: if prostate cancer runs in your family, your risk may be higher than average. 

We also know that men of Black African and Black African-Caribbean ancestry are at higher risk of developing prostate cancer. However, there's still much to learn about exactly why this is the case and how different risk factors interact with one another.  

Understanding who is most at risk is important because it could help us identify men who might benefit from closer monitoring or earlier testing in the future. 

Genetics and prostate cancer

How can our genetics impact our risk of getting prostate cancer? 

Our DNA contains all the genetic information that makes us who we are. Within that DNA, there can be genetic changes that affect a person's likelihood of developing certain diseases, including prostate cancer. 

Some of these changes are rare but can have a significant impact on a man's risk. Others are much more common and, individually, may only have a very small effect. However, when lots of these common genetic changes are considered together, they can help us build a picture of a person's overall risk.  

Researchers are continuing to learn about which genetic changes matter most and how they may influence a person's chances of getting prostate cancer. Ultimately, this knowledge could help us move towards more personalised approaches to diagnosis and screening. 

Understanding the PROFILE study

What is the PROFILE study and what do researchers hope to learn from it? 

Led by renowned scientist Professor Ros Eeles, PROFILE focuses on people who have a higher risk of developing prostate cancer. This includes men with a family history of the disease, men of Black African or Black African-Caribbean ancestry, and men who are known to carry certain genetic changes associated with increased risk.  

The study aims to understand whether genetic information – alongside tools such as PSA testing, MRI scans and biopsies – could help improve the way we identify people who are most likely to develop prostate cancer. 

By studying people with a higher inherited risk, researchers hope to gather evidence that could one day help shape a prostate cancer screening programme.

Why is this research so important? 

We're trying to build a more complete understanding of what increases a person's risk of prostate cancer. One area we're studying is something called genetic profiling, which looks at many different genetic changes across a person's DNA. Rather than focusing on a single genetic change, researchers can assess the combined effect of multiple changes to help build a clearer picture of their overall risk.  

When we combine this information with data from PSA tests, MRI scans and other assessments, we hope it will help us identify the features that are most important in predicting a man's risk. That evidence could help inform future approaches to screening and early diagnosis.  

Research is a team effort 

What impact could studies like PROFILE have in the years and decades ahead? 

Our hope is that research will help us better understand who is most likely to develop prostate cancer and how we can identify those people earlier.  

The findings from PROFILE will help us understand the role that genetics could play in future screening programmes. And if genetic information can help identify people at highest risk, it may become possible to offer more tailored approaches to monitoring and testing.  

The ultimate goal is earlier diagnosis, when the disease is still curable. Detecting prostate cancer sooner can improve treatment options and outcomes, so identifying those at greatest risk could have a significant impact in the future. 

Large studies like PROFILE involve a huge number of people. What does it take to run research on this scale? 

Many different professionals work together to make studies like PROFILE possible. Doctors, nurses, scientists, statisticians and administrative teams all play important roles.  

But patients and members of the public are equally important. Research teams work with advisory groups that help shape studies from the beginning. These groups review study materials, help with the design of posters and videos, and advise us on how to reach communities in a way that resonates with them. Their experiences and perspectives help ensure that studies are designed with the people they aim to serve in mind.

A better future for men?

What gives you hope about the future of prostate cancer diagnosis? 

The field of prostate cancer research is always developing and improving. Every study adds to our understanding, and every participant who volunteers to take part contributes valuable knowledge that can help future generations. 

I'm very hopeful that one day we will have a screening programme for everybody at risk of prostate cancer, so that we’re able to detect prostate cancer early. Research is helping us move closer to that goal. 

Are you eligible to take part? 

The PROFILE study is currently open to men and transgender women aged 40 to 69, who haven’t previously had prostate cancer. You must have either a family history of the disease, be of Black African or Black African-Caribbean descent, or have a disease-causing variant in a high-risk cancer gene - for example, the BRCA1 or BRCA2 genes.

The study will continue to recruit until December 2030. If you know of anyone that might be interested in taking part, or to find further information, they can contact the PROFILE study team by calling 0208 722 4483 or email [email protected].

FIND OUT MORE ABOUT THE PROFILE STUDY