Director, Medical Genetics Institute Shaare Zedek Medical Center Jerusalem, Israel
Dr. Levy-Lahad is working on two related projects, the Israel Breast Cancer Study and Middle East Breast Cancer Study, with BCRF colleagues, Mary-Claire King and Moien Kanaan. Results from the Israel Breast Cancer Study (ICBS) led by Dr. Levy-Lahad and colleagues previously showed that breast and ovarian cancer risks are high in women who carry mutations in BRCA1 or BRCA2, even if these women did not have a family history of cancer. Such women would not be referred for testing until they become the first in their family to be affected. In their previous study, Dr. Levy-Lahad and colleagues explored the option of population-based genetic screening in Ashkenazi Jews, because in this ethnic group there are three common mutations that facilitate testing in large numbers of individuals. With modern sequencing tools, population-based screening could be applicable to women of all ancestries. However, whereas one in 40 Ashkenazi Jews is a BRCA1 or BRCA2 mutation carrier, the frequency of BRCA mutation in other populations is not known. In the next phase of their studies, the research team will determine the frequency of BRCA1 and BRCA2 mutations in both affected and unaffected women in a heterogenous population. This will be performed using non-Ashkenazi Jews as a model for other diverse populations, like those of the USA or Europe. Mutation frequency is likely to be lower than for Ashkenazi Jews, but may be high enough to justify population screening for inherited predisposition, confirming a new paradigm for cancer prevention. These studies will facilitate the application of genetic testing for BRCA1 and BRCA2 to advance precision medicine.
Genetic analysis and medical follow-up services for breast and ovarian cancer risk among Israeli women in the Middle East are highly developed. Comparable services for other women in the region were not available, however until the initiation of the Middle East Breast Cancer Study (MEBCS) in 2007 with support from BCRF. BCRF has been a continuous sponsor of the MEBCS, the goal of which is to provide genetic counseling, analysis and follow-up services to women of all ancestries in the region.
The MEBCS is directed jointly by Dr. Levy-Lahad; Moien Kanaan, PhD, of Bethlehem University, Bethlehem, Palestinian Authority, and Mary-Claire King, PhD, of the University of Washington, Seattle, USA. The MEBCS is a sister project of the New York Breast Cancer Study (NYBCS), directed by Dr King, and the Israel Breast Cancer Study (IBCS), directed by Dr. Levy-Lahad, which are also sponsored by BCRF.
As of this year, the MEBCS has enrolled 1000 breast cancer patients of Palestinian and Arab-Israeli origins and has completed genomic analysis comprising BRCA1 and BRCA2 and more than 30 other known and candidate breast cancer genes for 400 of these patients. In more than 10 percent of the young-onset and familial patients, they have identified the inherited mutation responsible for their disease. These mutations appeared not only in BRCA1 and BRCA2 but in a total of 11 different breast cancer genes.The observation supports the hypothesis that breast cancer has many different genetic causes and therefore that studying this population will enable discovery of new genes underlying breast cancer in women from all parts of the world.
In parallel, the researchers are establishing a comprehensive infrastructure for breast and ovarian cancer genetics services on the West Bank with clinical, laboratory, and bioinformatics capacities. They are providing genetic counseling and testing for breast and ovarian cancer patients at Augusta Victoria Hospital in East Jerusalem and at El Hussein Hospital in Beit Jala, a major breast cancer referral center on the West Bank. Laboratory and bioinformatics capacities at Bethlehem University are growing with development of genomic sequencing capacity.
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 Gyncology, Perinatal Medicine and Genetics. Internationally, she was a member of UNESCO's IBC (International Bioethics Committee) (2006-2009).