Active

Uncovering how a faulty BRCA2 gene causes breast cancer to develop

Co-funded with:

AECC

AECC Logo
Cancer types:

Breast cancer

Project period:

Research institute:

Centro de Biologia Molecular Severo Ochoa (CBMSO-CSIC)

Award amount:

£229,455

Location:

Spain

Aura Carreira Headshot
Researcher Dr Aura Carreira

Dr Aura Carreira and her team are studying how a faulty gene can lead to the earliest stages of breast cancer development. They hope that uncovering more detail about how specific mutations to this gene cause the development of cancer they will be able to reveal new potential ways to prevent, diagnose and treat breast cancer. 

Hope for the future

Breast cancer is the most common cancer in women worldwide, with an estimated 2.3 million women diagnosed 2020. Genetic mutations to a gene called BRCA2 can be passed down through the generations of family and significantly increase a person’s lifetime risk of developing breast, as well as other cancers like ovarian cancer. However, we don’t currently understand exactly how genetic mutations to BRCA2 lead to the development of breast cancer. 

Dr Aura Carreira and her team think that this problem exists because there are many different types of mutation to the BRCA2 gene, and each of these mutations can lead to a different way for breast cancer to develop. The team hope that, by understanding how these different mutations contribute to breast cancer development, they could reveal new targets for prevention, diagnosis, and treatment. 

Aura Carreira Headshot
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. 

Breast cancer is the most common type of cancer worldwide, with an estimated 2.3 million cases in 2020.

Aura Carreira Headshot
Dr Aura Carreira

Related projects

Anne Vincent Salomon Headshot

Complete France

Breast cancer

Can AI predict which patients will become resistant to treatment?

Researchers hope to find better, more personalised treatments for breast cancer patients by identifying characteristics that predict how a tumour will behave.

Researcher: Dr Anne Vincent-Salomon

Using AI to predict drug resistance mutations in breast cancer
Staffan Stromblad Team Shot

Active Sweden

Multiple cancers

How does ‘tissue stiffening’ affect cancer development?

This project hopes to discover more about the biology of how solid tumours develop to find new ways to prevent, diagnose or treat these cancers.

Researcher: Professor Staffan Stromblad

Understanding how 'tissue stiffening' affects cancer development
Roberta Tasso Headshot

Active Italy

General cancer research

Could nanoparticle 'smart bombs' target hard-to-treat tumours?

Once cancer has spread, or metastasised, it often becomes incurable. This project is investigating new ways to deliver drugs specifically to metastatic tumours.

Researcher: Professor Roberta Tasso

Developing natural nanoparticle “smart bombs” to target hard-to-treat tumours
Share this page