Drug could prevent women with ‘Angelina Jolie gene’ developing breast cancer

Jolie underwent a mastectomy in 2013 when, aged 37, she found out she had the faulty BRCA1 gene – ETTORE FERRARI/EPA-EFE/SHUTTERSTOCK

Prescribing existing drugs to healthy women who carry a gene that makes them more likely to develop breast cancer could prevent them from developing the disease, a breakthrough University of Cambridge study suggests.

Women who have faulty versions of the BRCA1 and BRCA2 genes, the same type that Angelina Jolie has, have about a 70 per cent risk of developing breast cancer, Cancer Research UK estimates.

Some women opt for a mastectomy to lower the risk by removing the breasts.

Jolie underwent the procedure in 2013 when, aged 37, she found out she had the faulty BRCA1 gene.

Cambridge scientists analysed the genetics of more than 800,000 cells taken from the donated breast tissue of 55 women who were undergoing various breast operations.

They identified that in healthy women with the faulty BRCA1 and BRCA2 genes they have immune cells which are “exhausted” and not working properly, and are therefore incapable of clearing out cancerous cells.

The results, published in Nature Genetics, are the first time exhausted immune cells have been seen in individuals other than late-stage cancer patients.

Researchers hope that this discovery could allow for immunotherapy drugs already in use for cancer treatment to be given preventatively to combat the depleted immune system.

This could stave off cancer in high-risk women and also reduce the need for mastectomies, which are highly invasive and emotionally stressful.

Emotionally stressful

“Our results suggest that in carriers of BRCA mutations, the immune system is failing to kill off damaged breast cells – which in turn seem to be working to keep these immune cells at bay,” said Prof Walid Khaled, senior author of the report from the University of Cambridge.

“We’re very excited about this discovery, because it opens up potential for a preventative treatment other than surgery for carriers of BRCA breast cancer gene mutations.”

He added that nobody has previously considered using cancer drugs preventatively because they did not know the faulty immune cells were present before cancers developed.

The project led to the creation of a Human Breast Cell Atlas which identified 41 cell sub-clusters and, within that, saw the exhausted immune cells.

Scientists write in their paper that the ineffectiveness of these cells could nullify the body’s ability to combat early-stage tumours when they first develop.

“The Atlas presented here provides the research community with a rich resource that can be used as a reference for studies on the origins of breast cancer, thereby informing novel approaches for early detection and prevention,” the scientists write in their paper.

There are various forms of immunotherapies available for breast cancer, where treatments alter the way the immune system works in order to fight off cancer.

These are effective but come with side effects, such as nausea, dizziness, weakness and fatigue. The team now hope to run animal studies to see if the preventative drug approach could work, and what dose is needed, and then could progress to human trials.

Dr Simon Vincent, director of research, support and influencing at Breast Cancer Now, said: “The best weapon we could have against breast cancer is the ability to stop it occurring in the first place.

“This research, which used tissue samples from Breast Cancer Now’s Tissue Bank, suggests that we could prevent some women with altered genes from developing the disease by using drugs currently approved for treatment in the late stages of breast cancer.

“While further research is needed and clinical trials in humans are yet to take place, these findings could be a significant step forward in our care and treatment of people whose genes mean they have an increased risk of developing breast cancer.”

Play The Telegraph’s brilliant range of Puzzles – and feel brighter every day. Train your brain and boost your mood with PlusWord, the Mini Crossword, the fearsome Killer Sudoku and even the classic Cryptic Crossword.