Using genetics and CRISPR to personalise new targeted treatments for patients with familial breast cancer

This research project is focused on the genetics of breast cancer. We know that cancer can be caused by errors in certain genes, called mutations. We also know that these mutations run in some families, and therefore some women unfortunately inherit a risk of developing breast cancer. Landmark studies on these families led to the discovery of cancer-causing mutations in the BRCA1 and BRCA2 genes. These discoveries were very important because they helped doctors to identify individual family members at high-risk and then monitor and treat them carefully. However, mutations in BRCA1/2 are only detected in one in five women with familial breast cancer. Therefore to identify more mutations, we selected patients from Irish families with strong histories of breast cancer, but with normal BRCA1/2 genes. Next, we used a method called "DNA sequencing" and discovered several additional gene mutations. Our key goal now is to determine if these mutations could be responsible for causing breast cancer.

We will apply an innovative strategy called 'CRISPR', which allows us to generate cells with exactly the same mutations as those in the genes of families with breast cancer. We will use these cell models to determine what happens the cells and to test the personalised 'biological' drugs, many of which are already in use for the treatment of cancer. We will also look for mutations in the genes in other women with familial breast cancer from independent Irish and international groups, in order to further understand the importance of these genes in this disease. We anticipate that this 3.5 year project has the potential to benefit the lives of women with breast cancer from up to 15% of all high-risk families without mutations in the BRCA genes.


Award Date
29 June 2017
Award Value
Principal Investigator
Professor Adrian Bracken
Host Institution
Trinity College Dublin
Investigator Led Projects