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

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

SUBMITTER: Greenberg R 

PROVIDER: S-EPMC11613553 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature