BRCA gene discovery: 30 years on from the breakthrough in breast cancer research

“Good scientific research is a bit like an absorbing hobby. You think about it all the time.” 

Those were the words of Professor Tomas Lindahl in 2015 shortly after he’d been awarded the Nobel Prize in Chemistry. His work was revolutionary, challenging the consensus that DNA is stable over time and laying the groundwork for the discovery of the BRCA1 and BRCA2 genes. This year marks the 30th anniversary of the discovery of those genes, with Cancer Research UK (CRUK) ’s scientists at the forefront of these discoveries which have revolutionised how we prevent, diagnose and treat certain cancers. 

Discoveries of this nature take time and as the quote alludes to, scientific research can often become all-encompassing. It’s part of the reason I’m so grateful and in deep admiration of the researchers, clinicians and scientists that Cancer Research UK support, many of whom dedicate their professional lives to making a difference for humankind. 

The discovery of BRCA Genes 

The story of BRCA genes is a testament to the power of scientific inquiry and perseverance. Back in 1911, long before it was understood how genes and DNA work, our scientists suggested there might be an inherited component to breast cancer. It took more than 80 years of research to identify which faulty genes were responsible for increasing a person’s risk of developing breast cancer. 

In 1993, our scientists headed an international team of researchers who pinpointed the region of the human genome containing the BRCA1 gene. A year later – following the discovery of BRCA1 – our scientists, led by Sir Mike Stratton, pinpointed the region of the genome where a second faulty breast cancer gene, BRCA2, must be. The team then discovered the gene the following year. 

Genetic testing and advancements in treatment 

The identification of BRCA1 and BRCA2 has transformed our approach to hereditary cancers. It means some people are now offered genetic testing to determine if they have the faulty genes, so that they can understand more about their cancer risk and make informed choices about their health. 

Cancer Research UK’s scientists have also played a role in transforming treatments for people with BRCA-driven cancers. One of the most notable developments was the introduction of PARP inhibitors, which were initially developed to improve existing cancer treatments by stopping cancer cells from repairing DNA damage caused by chemotherapy and radiotherapy. In 2005, scientists realised that cancers with BRCA mutations were highly susceptible to PARP inhibitors and today, two drugs that we funded – olaparib, from Professor Steve Jackson’s lab in Cambridge and rucaparib, from Professor Ruth Plummer’s lab in Newcastle – are used to treat certain ovarian, breast and prostate cancers.  

We aren’t stopping here 

Our scientists continue to deepen their knowledge of how BRCA genes work and explore how PARP inhibitors could be used to treat many more types of cancer. Whether that’s the PARTNER trial, led by Professor Jean Abraham, that is testing new treatment combinations for BRCA-driven early breast cancer. The EMBRACE study, led by Professors Douglas Easton and Nitzan Rosenfeld, which aims to detect breast and ovarian cancers earlier in people at high risk. Or the work of Professor Anthony Chalmers and his team at the University of Glasgow that could improve existing treatments for people diagnosed with glioblastomas, the most common type of cancerous brain tumour in adults. 

Since the discovery of the BRCA genes 30 years ago, we’ve made huge leaps forward in understanding faulty BRCA-driven cancers – leaps that are saving and improving lives right now. Our outstanding researchers have brought hope to so many. But our work is far from done if we’re to achieve our vision of a world where everybody lives longer, better lives free from the fear of cancer. A vision that, like Tomas Lindahl did many years ago, we think about all the time.