Carrier screening program for BRCA1/BRCA2 pathogenic variants among Ashkenazi Jewish women in Israel: An observational study

Rotem Greenberg, Efrat Aharonov-Majar, Ofer Isakov, Samah Hayek, Naama Elefant, Ran D. Balicer, Adi Berliner Senderey, Shay Ben-Shachar

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

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 languageEnglish
Article number100824
JournalGenetics in Medicine Open
Volume1
Issue number1
DOIs
StatePublished - 1 Jan 2023
Externally publishedYes

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

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