Abstract
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.
Original language | English |
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Article number | 100824 |
Journal | Genetics in Medicine Open |
Volume | 1 |
Issue number | 1 |
DOIs | |
State | Published - 1 Jan 2023 |
Externally published | Yes |
Keywords
- Ashkenazi Jewish
- BRCA1
- BRCA2
- Cancer predisposition
- Population carrier screening
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology (miscellaneous)
- Cell Biology
- Genetics
- Molecular Biology