• Researcher Profile

    Judy E. Garber, MD, MPH

    Director, Center for Cancer Genetics and Prevention
    Susan F. Smith Center for Women's Cancers
    Institute Physician

    Professor of Medicine, Harvard Medical School


    Breast Oncology
    Cancer Genetics and Prevention
    Pediatric Cancer Genetic Risk Program

    Office phone: 617-632-3800
    Fax: 617-632-1930
    Email: judy_garber@dfci.harvard.edu

    Preferred contact method: office phone

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    Research Department

    Medical Oncology/Population Sciences


    Breast cancer, Cancer genetics, Cancer prevention

    Area of Research

    Clinical Cancer Genetics, Cancer Risk, and Prevention

    Dana-Farber Cancer Institute
    450 Brookline Avenue
    Boston, MA 02215


    Dr. Garber received her MD and MPH in 1981 from Yale University School of Medicine. She served her internal medicine residency at Brigham and Women's Hospital, followed by fellowships in hematology at BWH, medical oncology at DFCI, and biostatistics at the National Cancer Institute. She joined DFCI as a fellow in 1985, and now works as a medical oncologist and clinical cancer geneticist.

    Recent Awards

    • Charles H. Dyson Scholar in Clinical Research, DFCI, 1997


    Clinical Cancer Genetics, Cancer Risk, and Prevention

    Our group has two areas of active interest: the identification of individuals with genetic factors that place them at high risk of developing cancer, and the development of strategies to reduce cancer risk. We focus on breast cancer primarily, but are now expanding our efforts to other cancers.

    Breast cancer genetics
    Our group developed one of the first cancer risk and prevention clinics, where we recruit patients and families with hereditary and familial breast cancer, evaluate them for mutations in BRCA1, BRCA2, and other genes, and then enroll patients in ongoing follow-up studies. These studies evaluate the long-term psychosocial and medical effects of genetic testing and explore the best ways to integrate genetic testing into the care of women diagnosed with breast cancer. We are also studying the prevalence of germline p53 mutations and mutations in the Fanconi anemia (FA) genes in a cohort of the very youngest women diagnosed with breast cancer. In collaboration with Dr. Alan D'Andrea, we also plan to expand epidemiologic studies of the FA genes to squamous tumors.

    Breast cancer risk reduction
    We are developing novel approaches to the chemoprevention of cancer and the identification of modulatable biomarkers for use in chemoprevention studies. One clinical trial uses aromatase inhibitors to reduce circulating estradiol in women who have the highest levels, and measures changes in bone density and mammographic breast density as biomarkers of hormone effect. Another trial is piloting tamoxifen in women with increased risk of breast cancer because of chest radiation therapy for Hodgkin's disease. In collaboration with Drs. Myles Brown and Bruce Spiegelman, we are developing biomarker assays for use in the evaluation of rosiglitazone in an early-phase breast cancer chemoprevention trial. In a phase I chemoprevention trial, we are studying the epidermal growth factor receptor (EGFR) antagonist, Iressa. Finally, we are developing duct lavage as a sampling technique with which to identify modulatable biomarkers for use in breast cancer chemoprevention trials.

    We are also interested in using genetic markers to identify individuals at particular risk for toxic side effects of chemoprevention agents. Two large national trials are evaluating the potential contributions of hereditary clotting abnormalities, factor V Leiden and prothrombin G20210A, to the risk of thromboembolic complications with tamoxifen.

    Select Publications

    • Masciari S, Garber JE. Quality or quantity in the management of hereditary ovarian cancer risk: is it really a tradeoff? J Clin Oncol 2005;23:6817-9.
    • Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol 2005;23:276-92.
    • Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, Van't Veer L, Garber JE, Evans GR, Narod SA, Isaacs C, Matloff E, Daly MB, Olopade OI, Weber BL. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004;22:1055-62.
    • Lubinski J, Phelan CM, Ghadirian P, Lynch HT, Garber J, Weber B, Tung N, Horsman D, Monteiro AN, Sun P, Narod SA. Cancer variation associated with the position of the mutation in the BRCA2 gene. Fam Cancer 2004;3:1-10.
    • Li FP, Fletcher JA, Heinrich MC, Garber JE, Sallan SE, Curiel-Lewandrowski C, Duensing A, van de Rijn M, Schnipper LE, Demetri GD. Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred. J Clin Oncol 2005;23:2735-43.
    • Leibowitz SB, Garber JE, Fox EA, Loda M, Kaufman DS, Kantoff PW, Oh WK. Male patients with diagnoses of both breast cancer and prostate cancer. Breast J 2003;9:208-12.
    • Kurian AW, Mills MA, Jaffee M, Sigal BM, Chun NM, Kingham KE, Collins LC, Nowels KW, Plevritis SK, Garber JE, Ford JM, Hartman AR. Ductal lavage of fluid-yielding and non-fluid-yielding ducts in BRCA1 and BRCA2 mutation carriers and other women at high inherited breast cancer risk. Cancer Epidemiol Biomarkers Prev 2005;14:1082-9.
    • DiGianni LM, Kim HT, Emmons K, Gelman R, Kalkbrenner KJ, Garber JE. Complementary medicine use among women enrolled in a genetic testing program. Cancer Epidemiol Biomarkers Prev 2003;12:321-6.
    • Balmana J, Diez O, Campos B, Majewski M, Sanz J, Alonzo C, Baiget M, Garber JE. Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon? Breast Cancer Res Treat 2005;92:273-7.
    • Garber JE, Hartman AR. Prophylactic oophorectomy and hormone replacement therapy: protection at what price? J Clin Oncol 2004;22:978-80.


    • DiGianni, Lisa, PhD
    • Kandel, Michaela, MD
    • Larsson, Nina, MD, PhD
    • Masciari, Serena, MD
    • Balmana, Judith, MD
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