Everyone has BRCA1 and BRCA2 genes, but mutations in these genes – which can be inherited – increase the risk of breast and ovarian cancer.
Researchers at the University of Cambridge, EMBL’s European Bioinformatics Institute (EMBL-EBI), and the Wellcome Sanger Institute have created the world’s largest catalogue of human breast cells, which has revealed early cell changes in healthy carriers of BRCA1 and BRCA2 gene mutations.
This study, published in the journal Nature Genetics, found that the immune cells in breast tissue of healthy women carrying BRCA1 or BRCA2 gene mutations show signs of malfunction known as ‘exhaustion’. This suggests that the immune cells can’t clear out damaged breast cells, which can eventually develop into breast cancer. This is the first time that ‘exhausted’ immune cells have been reported in non-cancerous breast tissues at such a scale. Usually, cells in this state are only found in late-stage tumours.
The results raise the possibility of using existing immunotherapy drugs as an early intervention to prevent breast cancer from developing in carriers of BRCA1 and BRCA2 gene mutations.
“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 Walid Khaled in the University of Cambridge’s Department of Pharmacology and Wellcome-MRC Cambridge Stem Cell Institute. “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. Drugs already exist that can overcome this block in immune cell function, but so far, they’ve only been approved for late-stage disease. No one has really considered using them in a preventative way before.”
About EMBL
EMBL is Europe’s flagship laboratory for the life sciences. Established in 1974 as an intergovernmental organisation, EMBL is supported by over 20 member states. EMBL performs fundamental research in molecular biology, studying the story of life. The institute offers services to the scientific community; trains the next generation of scientists and strives to integrate the life sciences across Europe. EMBL is international, innovative and interdisciplinary. Its more than 1700 staff, from over 80 countries, operate across six sites in Barcelona (Spain), Grenoble (France), Hamburg (Germany), Heidelberg (Germany), Hinxton (UK) and Rome (Italy). EMBL scientists work in independent groups and conduct research and offer services in all areas of molecular biology. EMBL research drives the development of new technology and methods in the life sciences. The institute works to transfer this knowledge for the benefit of society.
Everyone has BRCA1 and BRCA2 genes, but mutations in these genes – which can be inherited – increase the risk of breast and ovarian cancer. Researchers at the University of Cambridge, EMBL’s European Bioinformatics Institute (EMBL-EBI), and the Wellcome Sanger Institute have created the world’s largest catalogue of human breast cells, which has revealed early […]
