Dana-Farber Cancer Institute Boston, Massachusetts
Chief, Division of Cancer Genetics and Prevention Susan F. Smith Chair Dana-Farber Cancer Institute Professor of Medicine Harvard Medical School
BCRF Scientific Director
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. Overall, she and her team have successfully sequenced 39 BRCA1-associated, 90 BRCA2-associated and 17 PALB2-associated tumor samples and digitized images of these samples. The team is now analyzing the sequencing results to assess the prevalence of “BRCAness” to gain insight into their behavior and correlate this signature with other information about the samples such as tumor grade, mutations in other cancer-promoting genes, and patient age.
In the coming year, Dr. Garber will analyze these data and compare the “BRCAness” of these tumors to molecular profiling data of ER-positive breast cancer with no BRCA-associated mutations, assessing the regulation and biology of the hormone receptors. Dr. Garber will also examine the tumor immune profiles and characterize how tumor biology relates to the features of tumor architecture.
Judy E. Garber, MD, MPH is the Director of the Center for Cancer Genetics and Prevention at Dana-Farber Cancer Institute, an attending physician at the Brigham and Women’s Hospital, and a 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.
2001
The Hale Family Award
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