Titles and Affiliations

Chief, Division of Cancer Genetics and Prevention
Susan F. Smith Chair
Dana-Farber Cancer Institute
Professor of Medicine
Harvard Medical School
Boston, Massachusetts
BCRF Scientific Director

Research area

Assessing the biology of BRCA-associated, estrogen receptor-positive breast cancers. 


Little is known about the biology of estrogen receptor (ER)-positive breast cancers in tumors that also have inherited mutations in the BRCA1 or BRCA 2 genes. BRCA-associated, ER-positive early-stage breast cancer may be associated with intrinsically less favorable biology, which could have 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. Dr. Garber is working to understand the biology of BRCA-associated, ER-positive breast cancers more deeply and ultimately improve treatment for these patients. 

Progress Thus Far

PARP inhibitors are commonly used to treat BRCA-associated breast cancers independently of ER status, but uncovering what drives ER-positive, BRCA-associated cancers is necessary for effective treatment. Dr. Garber has assembled a cohort of 70 patients with BRCA1-associated ER-positive breast cancer and 161 patients with BRCA2-associated ER-positive breast cancer. They will add a control group on non-BRCA breast tumors from patients of similar age and hormonal status for their analysis.

What's next

In the coming year, Dr. Garber and her team will complete preparation of the tumor samples and initiate detailed molecular profiling and analysis of these samples. They will also include an exploratory cohort of ER-positive tumors that are also deficient in PALB2, another breast cancer susceptibility gene that works in conjunction with BRCA


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. 


BCRF Investigator Since


Donor Recognition

The Hale Family Award