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Produced the evidence that made Israel the first country to offer BRCA testing to a whole population group, by measuring cancer risk in carriers found through healthy men rather than through cancer clinics.
Ephrat Levy-Lahad directs the Medical Genetics Institute at Shaare Zedek Medical Center. With Mary-Claire King she designed the study that answered the objection to population BRCA screening: that risk estimates from families referred to cancer clinics cannot be applied to people found at random. Gabai-Kapara and colleagues genotyped 8,195 healthy Ashkenazi Israeli men, found 2.17 percent carrying one of the three founder variants, then enrolled their female relatives. Cumulative risk of breast or ovarian cancer by age 80 was 0.83 for BRCA1 carriers and 0.76 for BRCA2 carriers, and 51 percent of the 167 carrier families had little or no relevant cancer history, so family-history criteria would have missed them. Israel made founder testing available to every woman of Ashkenazi origin in January 2020. Levy-Lahad's group has since published on how the programme performs in practice, comparing carriers found by population screening with those found through oncogenetics clinics, and on long-read sequencing in the diagnostic laboratory.
| Title | Journal | Year |
|---|---|---|
| Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2 | Proceedings of the National Academy of Sciences | 2014 |
| Comparative analysis of BRCA pathogenic variant detection in a real-world setting: population screening versus oncogenetic clinics | JCO Precision Oncology | 2026 |
Shares Founder variant, Shaare Zedek Medical Center, Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD) and the tags clinician-scientist, genetics.
Shares Founder variant, Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2, Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD) and the tags clinician-scientist, genetics.
Shares Hebrew University of Jerusalem, Shaare Zedek Medical Center, Ovarian cancer and the tag clinician-scientist.
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Ovarian cancer.
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Ovarian cancer.
Shares Inherited risk is mostly unidentified, Germline (hereditary) testing, Ovarian cancer, HR-positive / HER2-negative breast cancer.
Shares Hebrew University of Jerusalem and the tag clinician-scientist.
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Ovarian cancer.