Dr Eleanor Roberts

What is your role in the study?

My role relates to the genetic aspect of the study. When participants provide a saliva sample for the genetic risk score, I process it, extract the DNA and analyse the results. We’re currently including nine genes associated with breast cancer risk, and I’m looking for a specific list of pathogenic variants, which are DNA changes that are strongly linked with disease risk.

I also assist with the processing of the polygenic risk score (PRS), a personalized assessment of a woman’s likelihood of developing breast cancer. This score is based on over 300 small DNA changes which, although fairly common in the population, each contribute a small amount of risk. By looking at them collectively, we can build a more accurate prediction of an individual’s breast cancer risk.

What are some of the biggest challenges you face in your role?

With genetic research, it’s a steep learning curve and there are a lot of complicated lab and data analysis techniques to learn. I’ve been fortunate to have the support of my supervisors, the BCAN-RAY team, and NHS staff, who have taught me a lot of the lab techniques and made the learning process a lot easier.

Of course, a major obstacle in genetic research more broadly is a lack of cultural representation, and so an important challenge researchers face is encouraging clinical trial participation in diverse communities to reduce health inequalities.

How far along is the study and what do you hope it will change about breast cancer risk assessment in the future?

The current end date is May 2025, with case recruitment ending in November. As of March 2025, 88 out of 500 women have been identified as increased risk. So far, 58 of these women have had a telephone appointment to discuss their risk and 18 have had their full dose mammogram.

Rather than once every three years, as is the case for regular breast screening, many of these women will receive annual mammograms to monitor any changes. Some have also been offered Tamoxifen, a risk-reducing medication to prevent breast cancer.

Looking ahead, if we implemented this personalised risk prediction across the UK, every woman could be given a risk assessment when she turns 30. We could then focus screening on high-risk individuals and detect cancers earlier in women who are more likely to develop them.

How did you become interested in cancer genetics?

I’ve always found genetics fascinating as it underpins all human biology, explaining everything from eye colour to disease risk, and I have been fortunate to be involved with several really interesting genetic research projects over the years.

At the same time, I’ve always been drawn to cancer research, with a particular interest in breast oncology. My grandmother died of breast cancer in 2021, which added a personal motivation to contribute even a small change or increase in knowledge to the field. Overall, I would say my two main focuses have been cancer and genetics, so I feel fortunate to be part of a project combining the two in BCAN-RAY.

What was the focus of your PhD?

The focus of my PhD was improving genetic risk prediction for breast cancer. Alongside my work focusing on younger women in the BCAN-RAY study, I also explored how the polygenic risk score (PRS) performs across different genetic ancestries.

As the PRS was developed using data from European women, it can often over predict breast cancer in non-European women, which can cause unnecessary stress by suggesting someone is higher risk than they are. I investigated ways to adjust the PRS using ancestry specific data from several genetic databases to see if we could improve its accuracy across these populations.

What does your typical day look like?

Because my role involves a combination of lab work and data analysis, no two days are the same. When I’m in the lab, I’m either processing saliva samples or genotyping the DNA, often using some really cool equipment. On the data analysis side, I spend a lot of time using specialist software, computational tools, and coding to analyse the genetic data.

Alongside this, I have to fit in meetings, admin work, and a fair amount of reading and writing, trying to stay on top of new papers coming out so we don’t miss any important developments related to the study.

What did you enjoy most about the ACED PhD programme?

I really enjoyed being an ACED PhD student because of how supportive it was, both from staff and fellow ACED students here in Manchester. The project and program managers were amazing, regularly checking in to offer support without ever making us feel micromanaged.

One of the standout aspects of the programme was the wide range of opportunities available, such as summer schools and training programmes. I’m currently enrolled on a programme covering aspects of cancer early detection beyond my personal work, so they are really helpful in giving a more holistic understanding of the wider field.

There’s also the ACED international conference, which is a great chance to network and connect with leading scientists from around the world.

What are your future plans/goals?

I’d really like to build more research independence and continue expanding my skill set. Although they are highly competitive, I am considering applying for an early career grant to achieve this, as the challenge of academia is what gives me the most personal satisfaction.

What skills and experiences has your PhD given you that is helping you to achieve your goals?

The transferable skills I have gained in areas such as data analysis, problem solving, teamwork, critical thinking, presentation and communication have been extremely valuable following my PhD. For instance, I was selected to deliver a lightning talk at an international ACED conference in San Francisco, and I credit the public speaking experience I gained during my PhD with helping me speak confidently in front of such an inspiring audience.

Do you have any advice for aspiring researchers?

One of the most valuable things I’ve learned is the importance of building strong relationships with the people you work with. Research can be really challenging, so having a supportive team around you makes a huge difference. Reaching out to potential supervisors or lab members to get a sense of what it’s like to work with them can help open the right doors to valuable opportunities early in your career.

If you’re considering doing a PhD, choosing a topic that genuinely interests you is crucial. Research can be tough, and having passion for your subject makes the difficult days much more manageable. You should, however, be prepared for research to take a while to get results and not get disheartened if you don’t see anything happen in the first three, six, or even twelve months. This is normal but you’ll need to be adaptable and resilient to push through any setbacks and keep moving forward.

Finally, try to have faith in your abilities because you probably know more than you think. Imposter syndrome is something experienced by the vast majority of the PhD community but remember that a PhD is a training degree — you’re not supposed to know everything when you first start. You’re there to learn, and every day, with hard work, you will become a better researcher.