University of Pennsylvania Philadelphia, 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
Member, BCRF Scientific Advisory Board
Understanding the effect of BRCA mutation on immune function in 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 lead 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 the Immune Health Institute at Penn Medicine, Dr. Domchek’s team is using advanced techniques to measure indicators of DNA damage in the immune cells of BRCA1/2 mutation carriers. The team will also investigate the function of immune cells as a response to flu vaccination in BRCA1/2 carriers. To date, the team has conducted an initial analysis of immune cells from 13 BRCA1 carriers and 17 BRCA2 carriers, comparing them to immune cells from age- matched non BRCA mutation carriers that lack the mutations. These studies may help illuminate the complex immune biology of BRCA mutation carriers, their immune system’s ability to identify and respond to precancerous cells, and their potential response to vaccine therapy.
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.
2007
The Pink Agenda Award in Memory of Erica Starr
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