Article
Population-based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants.
Molecular genetics & genomic medicine - 1 Jun 2022
Castillo Cecilia, Artagaveytia Nora, Brignoni Lucia, Laitman Yael, Camejo Natalia, Hernández Ana Laura, Krygier Gabriel, Cayota Alfonso, Delgado Lucia, Friedman Eitan
Abstract excerpt
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...
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