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Ephrat Levy-Lahad, MD

Shaare Zedek Medical Center
Jerusalem, Israel

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.


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. Development and implementation of 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

Results from IBCS have shown that population screening for hereditary risk of breast and ovarian cancer is possible in a genetically heterogeneous population. Dr. Levy-Lahad is now determining the frequency and spectrum of mutations in multiple breast cancer genes in both affected and unaffected women in a heterogeneous population of non-Ashkenazi Jews. She and her team found that Ethiopian Jews also have specific, common mutations in BRCA2 and can also benefit from a general screening strategy. In the MEBCS, Dr. Levy-Lahad and her collaborators have identified both common and new genetic causes of inherited breast cancer among Arab women. The team has found that the genetic basis of inherited breast cancer in Palestinians is highly heterogeneous and discovered new BRCA2, TP53, and PALB2 mutations.

What’s next

Dr. Levy-Lahad is continuing to develop streamlined, population-based screening for women of all ancestries. In parallel, her team is also searching for new genetic causes of breast cancer by studying non-Ashkenazi Jews who have diverse ancestries, such as the population of the United States or Europe. She and her team will perform gene association analyses by examining data from the UK Biobank, which includes genomic and medical information from over 17,000 women with breast cancer. The MEBCS investigators will evaluate the relevance of the recently identified BRCA2, TP53 and PALB2 mutations to inherited breast cancer, continue their work identifying mutations responsible for inherited susceptibility to breast cancer in the Middle Eastern population, and assess cancer risk in families with genetic testing.


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.

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).

BCRF Investigator Since


Donor Recognition

The Roslyn and Leslie Goldstein Award

Areas of Focus

Heredity & Ethnicity


Mary-Claire King, MD

University of Washington
Seattle, Washington

Moein Kanaan, MD

Bethlehem University
Palestinian Authority