Breakthrough’s researchers are experts in hereditary breast cancer, and currently have two ‘world-first’ clinical trials in progress.
What is hereditary breast cancer?
Hereditary breast cancer – accounting for around 5% of breast cancer cases - is linked to inherited faulty genes and often affects younger people. BRCA1 and BRCA2 are the most common genes associated with this form of the disease, currently there are no specific treatments for hereditary breast cancer.
What is Breakthrough doing about it?
Professor Alan Ashworth discovered that cells with faulty BRCA genes are particularly sensitive to a class of chemicals called PARP inhibitors. These are now being trialled in the clinic.
Led by Breakthrough’s Dr Andrew Tutt and KuDOS, part of AstraZeneca, this is the world’s first clinical trial of a targeted treatment for hereditary breast cancer. Initial results suggest the drug could benefit many people.
Dr Tutt is also leading a clinical trial of a form of chemotherapy using carboplatin. The trial aims to determine if carboplatin is more effective than docetaxel, the standard chemotherapy treatment for hereditary breast cancer that has spread to other parts of the body.
In 2008, Professor Ashworth made an important discovery about how BRCA-related breast cancers become resistant to drugs. With this knowledge, we hope to counter resistance to certain treatments in the future.
There are many genes that play a role in inherited forms of breast cancer, not just BRCA1 and BRCA2 genes. Inheriting a faulty version of one or more of these genes may moderately increase the risk of breast cancer. Although some of these genes have been found, scientists believe there are still many more to be identified. So our search continues.
For more information about clinical trials, visit www.cancerhelp.org.uk.



