Dana-Farber Cancer Institute
Chief, Division of Cancer Genetics and Prevention
Susan F. Smith Chair
Dana-Farber Cancer Institute
Professor of Medicine
Harvard Medical School
Assessing the biology of BRCA-associated, estrogen receptor-positive breast cancers.
Little is known about the biology of BRCA1 or BRCA2-driven breast cancers that are estrogen receptor (ER)-positive, which may be associated with intrinsically less favorable biology and higher risk of recurrence. This subset of breast cancers appears pathologically “intermediate” between BRCA-associated, ER-negative breast cancers and more common ER-positive breast cancers. This observation could mean that there is a unique mechanism by which some ER-positive breast cancers develop in BRCA mutation carriers. Dr. Garber is working to understand the biology of BRCA-associated, ER-positive breast cancers more deeply to ultimately improve treatment for these patients.
While PARP inhibitors are commonly used to treat BRCA-associated breast cancers independently of ER status, uncovering what drives ER-positive, BRCA-associated cancers is necessary for effective treatment. Dr. Garber has assembled a cohort of patients with ER-positive breast cancer who have mutations in BRCA1, BRCA2, or PALB2, another breast cancer susceptibility gene. Her team has begun to profile tumor samples to assess the prevalence of “BRCAness” in this cohort. They hope to gain insight into tumor behavior and will correlate this signature with tumor grade, mutations in other cancer-promoting genes, and age.
In the coming year, Dr. Garber will complete the molecular profiling of the collected samples. These results will be combined with the assembled clinical data and compared with molecular profiling data of ER-positive, non-BRCA-associated samples. The team will assess tumor “BRCAness” and assess the regulation and biology of the hormone receptors.
Judy E. Garber, MD, MPH is the Director of the Center for Cancer Genetics and Prevention at Dana-Farber Cancer Institute, Attending physician at the Brigham and Women’s Hospital, and Professor of Medicine at Harvard Medical School.
Her interests focus on breast cancer genetics, risk reduction and the development of therapeutics for the treatment and prevention of breast and related cancers in individuals carrying predisposing mutations. Her research includes the study of basal-like breast cancer, common in women with BRCA1 mutations. Her first neo-adjuvant trial of cisplatin in patients based on the role of BRCA1 in DNA repair demonstrated a significant complete response rate that has led to a series of trials, including a randomized phase II international, multicenter trial. Her research also includes the evaluation of novel agents targeting DNA repair defects in the treatment and prevention of triple negative or basal-like breast cancer, particularly platinums, PARP inhibitors and RANK ligand inhibitors.
Dr. Garber was elected to the National Academy of Medicine in 2013. She is a past president of the American Association for Cancer Research and a member of the National Cancer Advisory Board. She also served on the Board of Scientific Counselors of the National Cancer Institute. She has been a member of the BCRF Scientific Advisory Board since 2008.
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