Uncovering how a faulty BRCA2 gene causes breast cancer to develop

Meet the scientist

Dr Carreira and her lab are based at the Centro de Biologia Molecular Severo Ochoa (CMBSO-CSIC) in Madrid, Spain. Their research focuses on understanding how cells repair DNA to prevent faults, and the role of BRCA2 mutations in cancer. 

The science

Genetic mutations to the BRCA2 gene are known to increase a person’s risk of developing cancer. But how mutations to this gene drive the early stages of cancer formation are poorly understood. Previous research has shown that genetic mutations to BRCA2 can lead to distinct “signatures”, or patterns of genetic mutations, within the cancer genome. Dr Aura Carreira and her team are trying to uncover whether different types of mutation within the BRCA2 gene may be responsible for producing different “signatures”. 

The researchers now want to find out if these “signatures” are responsible for switching on different molecular mechanisms that drive tumour formation. To study this, the researchers will collect DNA from breast tumour samples, as well as healthy breast tissue, donated from the same patient, and look for specific genetic signatures caused by the different mutations to BRCA2. They will also mimic the same mutations in healthy breast cells by genetically engineering them in the lab to see if those specific mutations alter the way cells respond to chemotherapy. 

By understanding how different types of genetic mutation to BRCA2 lead to tumour development, they will reveal genetic patterns and specific genetic mutations and traits associated with breast cancer that are currently unknown. They hope that this could lead to the discovery of new biomarkers or molecular targets present at the earliest stages of cancer development. 

This project is 50% co-funded by FC-AECC.