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

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...

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Detalles Bibliográficos
Autores principales:	Castillo, Cecilia, Artagaveytia, Nora, Brignoni, Lucia, Laitman, Yael, Camejo, Natalia, Hernández, Ana Laura, Krygier, Gabriel, Cayota, Alfonso, Delgado, Lucia, Friedman, Eitan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184654/ https://www.ncbi.nlm.nih.gov/pubmed/35332707 http://dx.doi.org/10.1002/mgg3.1928

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