Our role in the discovery of the BRCA2 gene

Our involvement in the discovery of the BRCA2 gene started with a phone call.

BRCA stands for BReast CAncer gene. Everyone has them but some people carry a mutation. This increases risk of breast and ovarian cancer in women, and male breast cancer and prostate cancer in men.

In September 1991 Jean Rook, a columnist at the Daily Express, died of breast cancer. Esther Rantzen, a fellow journalist and broadcaster, had picked up the phone and called Jean when she’d first been diagnosed. Now, she was devastated to hear the news that her friend and colleague had passed away.

So Esther picked up the phone again – this time, to call the editor of the Daily Express, who she convinced to launch the Jean Rook appeal in her memory. The appeal would raise money for a breast cancer charity that would later come to be known as Breast Cancer Now.

And by 1993, the Jean Rook Appeal had reached around £200,000. At the time, we were raising money to create our Toby Robins Research Centre at the Institute of Cancer Research, London. But the centre’s founding director, Professor Barry Gusterson, saw an opportunity to put the appeal money to work sooner.

He suggested using it to support research into inherited breast cancer, including the race to find genes linked to breast cancer that runs in families. This was a fast-moving area of science, and researchers needed the right equipment and resources to analyse DNA at speed. Barry knew this funding could help give them that capacity, accelerating progress and opening the door to discoveries that could change our understanding of breast cancer.

Scientists found the first gene linked to breast cancer, BRCA1, in 1994. But they still couldn’t explain all cases of inherited breast cancer. They believed that there was another gene yet to be discovered.

The race was on. The goal was not only to make a major scientific discovery, but also to keep any new genes free from being patented. This was important because patenting may have put restrictions on freely and affordably using and researching them to aid diagnosis and treatment.

Following Barry’s suggestion, the Jean Rook appeal money was used to fund an automated DNA sequencing machine for Professor Mike Stratton’s research group at the Institute of Cancer Research. Mike’s team had been hunting for a new breast cancer gene around the clock. And with this machine, they could rapidly analyse more regions of DNA than ever before.

Then in 1995, Mike and his colleagues crossed the finish line first. They had found the elusive BRCA2 gene. And in doing so, they made sure it was kept freely available for other researchers to study in the UK.

The impact of the BRCA2 discovery has been enormous.

Almost immediately, it allowed women to check if they had inherited an altered BRCA2 gene from a parent. And for those that have inherited the altered gene, these women have a 61% to 77% chance of developing breast cancer during their lifetime.

Before we knew of BRCA2, many women with breast cancer in their families chose to have risk-reducing mastectomies without knowing if they had the altered gene or not. Now, genetic testing allows many women to confirm that they don’t have changes in the BRCA genes, so they can avoid unnecessary mastectomies.

The first person in the UK to be tested this way was Annmarie Blomfield, an advertising executive with a strong family history of breast cancer. By 1996, Annmarie had already watched 15 of her relatives be diagnosed with breast cancer. She decided to have a pre-emptive double mastectomy to reduce her risk of developing the disease. But just months before her mastectomy, Annmarie got a call from Professor Mike Stratton.

Due to his team’s discovery, she could get tested for the altered BRCA2 gene. Her test showed she (and her two young daughters) hadn’t inherited the altered gene. And this meant she could avoid unneeded surgery.

Now, if testing does reveal an altered BRCA2 gene, women can take steps to manage their breast cancer risk. For example, through regular breast screening or risk-reducing treatment.

Our research over the last 3 decades has helped to create an entirely new way of treating cancer, by targeting its genetic weaknesses.  

Since the discovery of the BRCA2 gene, our scientists at the Breast Cancer Now Toby Robins Research Centre have found treatments that work really well against cancer cells with changes in both the BRCA1 and BRCA2 genes. This led to clinical trials of drugs called PARP inhibitors, including olaparib.  

We know that olaparib can cut deaths by 1/3 for certain people with early-stage breast cancer. And its now available across the UK for certain women with primary, locally advanced and metastatic breast cancer..  

But it doesn’t stop there. We’re continuing our research so that in future, drugs like olaparib will work for longer and benefit even more people. 

Now, thousands of people have benefited from identifying their cancer risk via BRCA2 testing and getting improved, tailored treatments.

And it all started with a simple phone call from Esther Rantzen.

Dame Esther Rantzen passed away from lung cancer in September 2026. She leaves behind a lasting legacy in the lives she has helped change.