Re-purposing clinical sequencing data for broader breast cancer susceptibly profiling.

Researchers: Dr. Katie Houlahan
Co-Investigators: Andrea Eisen, Daria Grafodatskaya
Project Status: In Progress

Breast cancer is the second most common cause of cancer death among Canadian women. Most deaths occur because the cancer spreads to other parts of the body. Catching breast cancer early, before it spreads, can greatly improve treatment outcomes and save lives. Genetic testing, which can be done using a blood sample, is one way to identify people who may be at higher risk of developing breast cancer.

Currently, this testing primarily looks for rare changes in DNA in a few specific genes. However, even people who carry these changes may or may not go on to develop breast cancer, making it difficult to predict who is truly at risk. Our research explores a new way to improve these predictions. In hospitals and clinics, many women already undergo genetic testing that looks at a small group of cancer-related genes. While these tests enrich for the target genes, they often collect genetic information on other genes too as a byproduct.

We aim to study whether this extra information can help us find more genetic clues related to breast cancer risk. By using existing clinical data, we hope to develop better tools to predict who is most at risk of breast cancer. This approach could make risk prediction more accurate without needing additional testing, and ultimately help more women receive timely screening, monitoring, and care.