Carrier screening program for BRCA1/BRCA2 pathogenic variants among Ashkenazi Jewish women in Israel: An
Rotem Greenberg1,2, Efrat Aharonov-Majar1, Ofer Isakov1,2,3,4
1Clalit Research Institute, Innovation Division, Clalit Health Services, Ramat Gan, Israel.
Purpose:
The aim of the study was to evaluate the results of a large-scale BRCA1/2 carrier screening program among Ashkenazi Jewish (AJ) women.
Methods:
We performed a cross-sectional study of women who were eligible for BRCA1/2 screening program. Women who self-reported as complete or partial AJ were screened for 14 pathogenic variants in BRCA1/2 genes, following the Israeli Ministry of Health's national screening program.
Results:
The study included 13,502 women who underwent screening between June 2020 and June 2022. The prevalence of the pathogenic variants in BRCA1/2 was 0.89% (120 of 13,502) among the tested women. Of the 14 variants tested, only 6 variants were detected. Three variants, known as the founder variants among AJ, accounted for 96.6% of identified variants (NM_000059.4(BRCA2):c.5946del, p.(Ser1982fs); NM_007294.4(BRCA1):c.68_69del, p.(Glu23fs); NM_007294.4(BRCA1):c.5266dup, p.(Gln1756fs)). The tested women were younger and of a higher socioeconomic status compared with the eligible non-tested women.
Conclusion:
The study provides a new insight into a large carrier screening program for BRCA1/2 pathogenic variants in AJ women in Israel. These findings present real-world prevalence of women who are heterozygous for BRCA1/2 pathogenic variants in AJ population and the importance of such programs.
