"Carrying a BRCA gene variant can feel isolating, but this research gives me hope more options for cancer prevention could be available in the future.” – Beth’s experience

When Beth Elias from Bradford found out she had an inherited risk of cancer, it brought years of family history into focus.

Her grandmother died from ovarian cancer more than 20 years ago. Since then, several women on the same side of the family have been diagnosed with breast cancer, including her aunt who is living with an incurable form of the disease.  

Beth said: "Cancer seemed to follow the bloodline through the family. As more people were being diagnosed, relatives started having genetic testing for increased cancer risk and many of them tested positive. My sisters and I knew we wanted answers too." 

^Beth Elias pictured above on the far right with her two sisters

Given the strong history of cancer in their family, Beth and her two sisters requested a genetic test through their GPs to find out if they carried an inherited gene variant linked to cancer. They were referred to a cancer genetics service just before Christmas and, while living in different parts of the country, wanted to go through the process together.  

When the letters containing their results arrived, the sisters waited until they were together before opening them.

Beth said: “Both my sisters came back with negative results, but I tested positive for the BRCA2 gene variant. It was a huge shock. We'd all gone through the process together, but suddenly it felt like it was just me.”

Everyone has BRCA1 and BRCA2 genes, which help repair damaged DNA and prevent cells from growing or dividing in an uncontrolled way. Some people carry variants in these genes that can affect how well this repair process works. These variants can often be passed down through families. When this repair process does not work as effectively, damaged cells can grow and multiply, and over time they may develop into cancer.

It is estimated 1 in 400 people carry a BRCA genetic variant, which is equivalent to nearly 11,300 people in Yorkshire.  

Following assessments of her family history and lifestyle, Beth, who is 37, was told she has a 60% chance of developing cancer in her lifetime, with the risk increasing after the age of 40.

She is now under the care of specialists in Bradford as she considers how best to manage her increased cancer risk and the options available to help reduce it. She will also receive more regular screening through the NHS, including annual MRI scans of her breasts before moving on to regular mammograms once she turns 50.

She said: “The cancer carrying the biggest risk is breast cancer, so I’m pleased I’m able to have regular scans to monitor my health. It means if anything is detected, it can be picked up early. Of course it’s reassuring to have those checks, but it also brings extra worry in the lead-up to the scan and while waiting for the results.”

The increase in cancer risk associated with BRCA gene variants is highest for breast cancer in women. Around 12 in 100 women in the UK will develop breast cancer during their lifetime, compared with up to 72 in 100 women who carry a BRCA gene variant. 

She continued: "I’m much more proactive now about looking out for potential signs and symptoms of breast cancer. Knowing gives me control, and that’s the biggest positive to come out of this.”

Since learning she carries the BRCA2 gene variant, Beth has spent a great deal of time considering the different options available to reduce her cancer risk, including preventative surgery and risk-reducing medication.

In May, she was prescribed a hormone therapy drug to help reduce the risk of breast cancer developing. Unfortunately, she began experiencing side effects shortly after beginning the course of medication. 

She said: “Unfortunately, I had to stop the hormone therapy because the side effects became too difficult to manage. I developed rashes, felt sore and noticed significant changes in my mood. It’s a shame because the drug I was taking has been hugely beneficial for many people around the world.”  

Although she has since stopped hormone therapy, Beth remains open to other preventative drug treatments in the future. She has recently become an ambassador for the PARP Inhibitors for Cancer Risk Reduction in Carriers (PARCC) study, a bold new research project funded by Yorkshire Cancer Research. The study will explore whether people with an inherited risk of cancer would consider taking a class of drugs called PARP inhibitors to help reduce their risk of developing cancer.  

PARP inhibitors are already widely used to treat cancers linked to BRCA genetic changes and there is a growing body of research showing they could also play a role in preventing cancer in people with an inherited risk of cancer.  

Led by researchers at the University of Cambridge, the study will involve more than 1,300 people from Yorkshire, alongside thousands of others across the UK. 

By seeking the views of people with experience of an inherited cancer risk, researchers and cancer experts aim to understand how people with these inherited changes feel about taking PARP inhibitors to reduce their cancer risk and what would matter most to them when considering taking part in a future cancer prevention clinical trial.  

Beth said: “I’m hugely supportive of this study because it could be the first step towards creating new options for people like me. At the moment, there are limited drugs to reduce the risk of cancer, and each comes with significant physical and emotional considerations.

“What’s so valuable about this research is that it gives people with experience of inherited cancer risk the opportunity to help shape this huge piece of research from the very beginning.”

“I’ve done a lot of reading about PARP inhibitors, and I know how successful they have been in treating people around the world. Just imagine if they could also be used to help prevent cancer from developing in the first place. 

Having tried hormone therapy, Beth is currently exploring options around preventative surgery, including whether to have a double mastectomy to reduce her risk of breast cancer and future surgery to remove her womb and ovaries. For her, the decision is far from straightforward.

She said: “I'm trying to address the biggest risk first, so right now I’m focusing on my options for reducing breast cancer risk through surgery. It’s positive there are different options available, but it also feels hugely overwhelming. Surgery is a massive decision. You're talking about weeks where you can't drive, can't work and can't pick up your children from school."

Beth has two young children, aged six and two.

Beth’s physical recovery from surgery is only one part of her decision. She has spent months researching the different surgery options available and thinking carefully about how changes to her body could affect her confidence, relationships and sense of identity.

Beth said: "There's the recovery, the scarring, losing sensation in the breast area and all the emotional things people don't necessarily think about straight away. How am I going to feel about my body afterwards? How am I going to feel as a woman?”

“It’s a hugely personal decision and not something to rush into. My family’s’ experience is proof of that. While some members have chosen to have major preventative surgery, others have decided not to have a genetic test in the first place.”  

At the same time, Beth knows there could be even more difficult consequences if she chooses not to have surgery. 

Throughout the process, Beth has believed it is vital to talk openly about inherited cancer risk to help others who may be experiencing something similar. She has sought counselling, reached out to support groups and spoken to others online with similar experiences, but believes more support in the UK is still needed.

She said: "The best way for me to cope is to talk about it. Not everyone deals with things in the same way, but speaking about it helps me process everything and reminds me that my feelings are normal.”

“Unfortunately, there are limited support options available for people who haven’t had a cancer diagnosis. I haven’t had cancer, but living with the knowledge I have an increased risk of developing it can still feel incredibly difficult. I want to help others like me understand they’re not alone.”

It’s Beth’s desire to help others that makes her passionate about supporting research into cancer prevention, including the PARCC study funded by Yorkshire Cancer Research.

She said: “Cancer prevention research is so important. If other options become available in the future, why wouldn't we want to explore them? Research gives people choices, and the PARCC study gives people with an inherited cancer risk a voice."

She concluded: