Research led by Professor Carlos Caldas (Oncology) and colleagues, published in Nature Communications, has shown in greater detail which genetic faults could be linked to development and progression of different types of breast cancer.

The researchers analysed tumour samples from the METABRIC study – which revealed breast cancer can be classified as ten different diseases – to gain deeper understanding of the genetic faults of these subtypes. They found 40 mutated genes associated with breast cancer progression. Only a fraction of these genes were previously known to be involved in breast cancer development. They also discovered that one of the more commonly mutated genes, PIK3CA, is linked to lower chances of survival for three of the ten subgroups. Crucially, this might help explain why drugs targeting PIK3CA work for some women but not for others.

The researchers believe the results could in the future help identify drugs to target these genetic faults, stopping the disease from progressing. It could also provide vital information to help design breast cancer trials and improved tests for the disease. The results will be made available to the public so that other researchers can benefit from the work.