Titles and Affiliations
Basser Professor in Oncology
Executive Director, Basser Center for BRCA
Director, Mariann and Robert MacDonald Cancer Risk Evaluation Center
Abramson Cancer Center
Perelman School of Medicine, University of Pennsylvania
Research area
Studying immune function in people with BRCA1 and BRCA2 gene mutations to guide the development of cancer-prevention strategies.
Impact
People who carry inherited mutations in the BRCA1 or BRCA2 genes face a much higher lifetime risk of developing breast, ovarian, and other cancers. Today, the most effective ways to reduce this risk are surgical—such as removing the breasts or ovaries—but these procedures can have a significant impact on quality of life. Dr. Domchek and her colleagues are working to expand the options available to BRCA mutation carriers by studying how their immune systems respond to early cancer-related changes in their cells. This research aims to lay the groundwork for cancer-prevention vaccines and new ways to detect cancer earlier through a simple blood test. Advances in this area have the potential to benefit not only people who carry BRCA mutations, but the broader population as well.
What’s next
Over the past decade, Dr. Domchek’s team has built a large biobank of blood samples collected regularly over time from more than 1,400 BRCA mutation carriers. A substantial number of participants in this group have gone on to develop cancer but the team can use these samples to look for early biological warning signs that appear in the blood before a cancer diagnosis. Building on their ongoing work studying immune health in BRCA1/2 carriers, Dr. Domchek and her colleagues will use these insights to help develop and validate new early cancer detection strategies, as well as inform future cancer-prevention vaccines for this high-risk population.
Biography
Susan M. Domchek, MD is the Basser Professor in Oncology at the University of Pennsylvania’s Perelman School of Medicine, where she serves as Executive Director of the Basser Center for BRCA at the Abramson Cancer Center and Director of the Mariann and Robert MacDonald Cancer Risk Evaluation Center. Her clinical and research program focuses on the genetics and management of hereditary breast and ovarian cancer.
Dr. Domchek has authored more than 250 articles in peer-reviewed journals and was elected to the National Academy of Medicine in 2018. In 2011, she organized an international team of physician-scientists, known as BRCA-TAC, whose work helped advance clinical testing of the drug olaparib for cancer patients with inherited BRCA1 and BRCA2 mutations. She is an elected member of the American Society for Clinical Investigation and a longtime member of the American Society of Clinical Oncology, where she has served on multiple committees. In 2015, she received the William Osler Patient-Oriented Research Award for her clinical research in breast cancer genetics.
