Population-based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants

Cecilia Castillo*, Nora Artagaveytia, Lucia Brignoni, Yael Laitman, Natalia Camejo, Ana Laura Hernández, Gabriel Krygier, Alfonso Cayota, Lucia Delgado, Eitan Friedman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


In Ashkenazi Jews (AJ) three recurring pathogenic sequence variants (PSVs) are detected in ~2.5% of the general population in the BRCA1 (c.68_69del = 185delAG, c.5266dup = 5382insC), and BRCA2 (c.5946del = 6174delT). Population-based screening for these PSVs in AJ women is part of the health basket in Israel. To assess the feasibility and outcome of BRCA genotyping in the Jewish population of Uruguay, AJ in the greater Montevideo area were recruited using ethically approved protocol and without pretest counseling were genotyped for the three predominant AJ PSVs in the BRCA genes. Independently confirmed PSV carriers were counseled, and genetic testing was offered to additional family members. Overall, 327 participants were enrolled: 312 (95%) female, 261 (80%) had all four grandparents AJ, and 14 (4%) women were breast cancer survivors with a mean age ± standard deviation (SD) 50 ± 11.5 years. The BRCA1 c.68_69del PSV was detected in three cancer free participants (0.92%, CI 95% 0.31–2.6), all with a suggestive family history. No carriers of the other two recurrent PSVs were detected. Online oncogenetic counseling was provided for all carriers. In conclusion, the rate of the BRCA1 c.68_69del PSV was similar with the rate in other AJ communities. AJ population BRCA genotyping screens in Uruguay seem feasible and should be promoted.

Original languageEnglish
Article numbere1928
JournalMolecular genetics & genomic medicine
Issue number6
StatePublished - Jun 2022


FundersFunder number
Comisión Honoraria de Lucha contra el Cáncer
Council of Jewish Women of Uruguay
Israel Cancer Association


    • Ashkenazi Jews
    • BRCA1 BRCA2 genes
    • cancer risk
    • oncogenetic counseling
    • population-based genotyping


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