Titles and Affiliations
Professor of Internal Medicine and Medical Genetics
Hebrew University
Director, Medical Genetics Institute
Research area
Increasing genetic screening in high-risk populations and advancing the understanding of inherited risk factors in diverse populations.
Impact
Dr. Levy-Lahad is working on two related projects, the Israel Breast Cancer Study (IBCS) and the Middle East Breast Cancer Study (MEBCS) with BCRF colleagues Drs. Moien Kanaan and Mary-Claire King. Genomic testing has an important impact on breast cancer prevention and early detection by accurately identifying women who are at particularly high risk of developing breast cancer. IBCS aims to further our understanding of the genetic bases of inherited breast cancer in the general population, and to improve the delivery of genetic testing. Her work in MEBCS involves looking for new breast cancer genes in the Arab population and providing genetics services to the Palestinian population. Collectively, these studies could identify more women and families who are at high risk of breast cancer, allowing them to take advantage of preventive and early detection strategies.
Progress Thus Far
The research team is continuing to study families with multiple cases of breast cancer where the genetic cause remains unknown, using advanced DNA sequencing to search for new genes that elevate risk. They have found that Ethiopian Jews carry a notably high frequency of BRCA2 mutations. Since 2025, this population has been included in the screening program. The team’s evaluation of Israel’s population-wide BRCA screening program continues to show that testing positively changes outcomes. Women who learn they carry a BRCA mutation before developing cancer through population screening rather than a cancer genetics clinic, tend to have better outcomes even if they later develop breast or ovarian cancer. They undergo risk-reducing surgery at similar rates to those identified through traditional clinic-based testing. In collaboration with Israel’s largest health maintenance organization, the team has also begun a large study of more than 88,000 screened women to better understand what influences whether someone chooses to get tested and how it shapes their subsequent care and prevention decisions.
What’s next
The research team will continue analyzing high-risk families with unknown genetic causes using the latest sequencing technologies, including studying sequences of DNA that don’t directly produce proteins but may still influence cancer risk.
Biography
Ephrat Levy-Lahad, MD is Professor of Internal Medicine and Medical Genetics at Hebrew University and Director of the Medical Genetics Institute at Shaare Zedek Medical Center in Jerusalem. She is one of the world’s foremost authorities on inherited breast cancer among Jewish women. Dr. Levy-Lahad received her medical degree from the Hebrew University-Hadassah Medical School in Jerusalem, Israel. She completed a residency in Internal Medicine at Shaare Zedek Medical Center also in Jerusalem, and a three-year fellowship in Medical Genetics at the University of Washington in Seattle. Since 1996, she has been Director of the Medical Genetics Institute and senior physician in the Department of Medicine at Shaare Zedek Medical Center.
Professor Levy-Lahad’s clinical laboratory includes cancer genetics diagnostics and a large pre-implantation diagnosis service. Her research focuses on genetics of breast cancer, in particular the BRCA1 and BRCA2 genes, and on genetic and environmental factors that affect the risk associated with these mutations. She studies the application of genetic testing to population screening and large-scale prevention efforts. Her laboratory is also involved in elucidating the genetic basis of rare diseases, including recent discoveries of novel genes for a rare congenital neurological disease in Ashkenazi Jews and for defects in ovarian development. She received the 2025 Basser Global Prize for leading population-based BRCA screening programs.
Professor Levy-Lahad is active in bioethical aspects of genetic research and is currently co-Chair of the Israel National Bioethics Council. She is a member of Israel’s National Council for Women’s Health and the National Council for Gynecology, Perinatal Medicine, and Genetics. Internationally, she was a member of UNESCO’s International Bioethics Committee (IBC, 2006-2009).
