University of Pennsylvania
Basser Professor in Oncology
Executive Director of the Basser Center for BRCA
Director, MacDonald Cancer Risk Evaluation Center
Abramson Family Cancer Center, Perelman School of Medicine
Understanding the immune system in BRCA mutation carriers to optimize and personalize breast cancer treatments.
Men and women with a BRCA gene mutation have an increased risk of developing ovarian, breast, prostate, and pancreatic cancers. Mutations in BRCA1 and BRCA2 genes in tumors leads to DNA damage, and recent studies have indicated that there may be a link between DNA damage and how the immune system responds to that damage. Dr. Domchek and her team are seeking to understand more about normal immune responses in individuals with mutations in BRCA1 and BRCA2 genes. This knowledge is needed to determine the effect on tumor surveillance, potential response to future cancer prevention vaccines, and individual response to immunotherapies.
In partnership with immune health centers at Penn Medicine, researchers are designing clinical trials and using advanced techniques to measure indicators of DNA damage in immune cells of BRCA1 and BRCA2 carriers. The team will also investigate the function of immune cells in response to other vaccinations in BRCA1 and BRCA2 mutation carriers. Preliminary results indicate subtle but potentially important changes in how the immune system responds to DNA damage, with implications beyond BRCA mutation carriers.
Dr. Domchek is now embarking on an in-depth analysis of specific immune cell types in individuals that carry this mutation and understanding how their responses differ in individuals that do not carry these mutations. The team’s long-term goal is to understand how to exploit the immune system in individuals with these BRCA mutations to optimize and personalize breast cancer treatments.
Susan M. Domchek, MD is the Basser Professor in Oncology at the Perelman School of Medicine of the University of Pennsylvania. She serves as Executive Director of the Basser Center for BRCA at the Abramson Cancer Center and Director of the MacDonald Cancer Risk Evaluation Program. Her work focuses on clinical applications of genetic susceptibility to cancer, including risk assessment, screening, prevention, and treatment. Dr. Domchek is particularly interested in developing new cancer therapies, such as PARP inhibitors in BRCA associated breast cancer. She is the Chair of the Translational Advisory Committee on the OlympiA study of adjuvant Olaparib (LYNPARZA®, PARP inhibitor) in high risk BRCA1/2 associated breast cancer.
An elected member of the National Academy of Medicine, the American Society of Clinical Investigation, and the Association of American Physicians, Dr. Domchek is also a member of the American Society of Clinical Oncology for which she had served on several committees. A significant contributor to the oncology literature, she has authored/co-authored more than 350 articles appearing in scholarly journals including the New England Journal of Medicine, the Journal of the American Medical Association and the Journal of Clinical Oncology. Dr. Domchek serves on several editorial boards and on the Scientific Advisory Board for the Breast Cancer Research Foundation.
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