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Ephrat Levy-Lahad, MD
Director, Medical Genetics Institute
Shaare Zedek Medical Center
- Seeking strategies to increase genetic screening in high-risk populations and define the landscape of inherited genetic risk factors in diverse populations.
- Genetic profiling in high-risk women is ongoing with efforts to build infrastructure and create resources to increase genetic testing and counseling.
- These studies may lead to a new paradigm in population screening for inherited predisposition to breast cancer and inform public health initiatives for cancer prevention.
Women of Ashkenazi Jewish ancestry are 10 to 20 times more likely than women in the general population to inherit a deleterious mutation in one of the BRCA breast cancer genes. In spite of the fact that these mutations run in families, an affected woman may have no family history of breast cancer to signal that she may be at risk. The work by Dr. Levy-Lahad has shown that population-based screening and genetic counseling is feasible across this population and is effective at identifying women at risk. Continuing work looks at how this strategy can be used in the general population so that women at high risk of breast cancer can take advantage of preventive and early detection strategies.
Full Research Summary
Dr. Levy-Lahad is working on two related projects, the Israel Breast Cancer Study (IBCS) and Middle East Breast Cancer Study (MEBCS), with BCRF colleagues, Mary-Claire King and Moien Kanaan.
Based on previous results from the IBCS, which showed a high risk of breast and ovarian cancer risks in BRCA1/BRCA2 mutation carriers with no family history, Dr. Levy-Lahad and colleagues explored the option of population-based genetic screening in Ashkenazi Jews. Prevalence of three common mutations in this ethnic group facilitates testing in large numbers of individuals. Preliminary results confirmed the feasibility of streamlining the counseling and testing process.
Whereas the frequency of BRCA1 or BRCA2 mutations in Ashkenazi Jews is established, their frequency in other populations is not known. Modern sequencing tools now allow for population-based screening to women of all ancestries. Dr. Levy-Lahad and colleagues have initiated studies to determine the frequency of mutations BRCA1 and BRCA2, as well as multiple other breast cancer genes, in both affected and unaffected women in a diverse ethnic population.
These studies may justify universal screening for inherited predisposition, expanding a new paradigm of utilizing genetics for public health cancer prevention.
Jointly conducted by Drs. Levy-Lahad, Moien Kanaan and Mary-Claire King, the MEBCS is a sister project of the New York Breast Cancer Study (NYBCS), directed by Dr. King, and the IBCS, also sponsored by BCRF.
Genetic analysis and medical follow-up services for breast and ovarian cancer risk are among the best in the world for Jewish women living in the Middle East. However, until very recently, no such services existed for women of other ancestries in the same region. The Middle East Breast Cancer Study is resolving these disparities.
Through the MEBCS, the team has established a modern genomics laboratory at Bethlehem University under the direction of Dr. Moien Kanaan, where routine genetic testing for breast cancer patients is being conducted. The research team has enrolled and carried out genetic testing for the largest cohort of breast cancer patients of Arab ancestry in the world. They have created, and sustained, training programs in cancer genetics for Palestinian nurses and social workers, who now offer counseling for high-risk women. They have characterized the distinctive genetic risk profile in Arab women that will inform characterization of these mutations in women of all ancestries.
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 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. Dr. Levy-Lahad holds a faculty appointment as Associate Professor in Medicine and Genetics at the Hebrew University-Hadassah Medical School in Jerusalem.
Professor Levy-Lahad's clinical laboratory includes cancer genetics diagnostics and a large pre-implantation diagnosis service. Her research laboratory 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 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 IBC (International Bioethics Committee) (2006-2009).