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

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

Abstract 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 healt...

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Bibliographic Details
Main Authors: Cecilia Castillo, Nora Artagaveytia, Lucia Brignoni, Yael Laitman, Natalia Camejo, Ana Laura Hernández, Gabriel Krygier, Alfonso Cayota, Lucia Delgado, Eitan Friedman
Format: Article
Language:English
Published: Wiley 2022-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Ashkenazi Jews
BRCA1 BRCA2 genes
cancer risk
oncogenetic counseling
population‐based genotyping
Online Access:https://doi.org/10.1002/mgg3.1928

Internet

https://doi.org/10.1002/mgg3.1928

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