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BCRF Grantee Since

2001

Donor Recognition

The Roz and Les Goldstein Award

Ephrat Levy-Lahad, MD

Director, Medical Genetics Institute
Shaare Zedek Medical Center
Jerusalem, Israel
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Current Research

Dr. Levy-Lahad is working on two related projects, the Israel Breast Cancer Study and Middle East Breast Cancer Stud, with BCRF colleagues, Mary-Claire King and Moein 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. The IBCS also showed that BRCA1 and BRCA2 account for 11% of breast cancer and 40% of ovarian cancer in Ashkenazi Jewish women. These findings demonstrate that a population-based screening program for mutations in BRCA1 and BRCA2 could have a significant impact on breast cancer incidence among Ashkenazi Jewish women, by identifying women at genetically high risk and offering them individualized surveillance and prevention measures. The advent of high-throughput sequencing tools makes this population-based screening model applicable, in principle, to women of all ancestries.

Precision medicine is an emerging concept that applies advances in molecular profiling to identify precise diagnostic, prognostic and therapeutic strategies tailored to each patient's needs and is one of the primary goals in modern medicine.  Thus far, however, relatively few discoveries based on the human genome have matured into evidence-based applications for public health. Moving scientific discoveries into clinical practice and delivering health benefits at the population level is a complex translational process. Towards this effort, Dr. Levy-Lahad and her team are conducting a translational study to identify optimal BRCA1 and BRCA2 screening strategies by comparing various screening options, such as different health care settings and recruitment methods. These studies will facilitate the application of genetic testing for BRCA1 and BRCA2 to advance precision medicine.

The Middle East Breast Cancer Study (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.

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 MEBC, the goal of which is to provide genetic counseling, analysis and follow-up services to women of all ancestries in the region.

As of this year, the MEBCS has enrolled 852 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 344 of these patients. The investigators will continue to screen all breast cancer genes in this group of patients in order to determine the frequency of mutations of each gene and how each mutation affects the function of its gene. This year they will also extend their outreach to additional Palestinian patients through a new collaboration with the El-Hussein Hospital in Beit Jala (between Bethlehem and Jerusalem).

A striking observation of the study to date is that many patients from families very severely affected with breast cancer have no damaging mutation in any of the known 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.

Bio

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).

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