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Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry

Current guidelines recommend BRCA1 and BRCA2 genetic testing for individuals with a personal or family history of certain cancers. Three BRCA1/2 founder variants — 185delAG (c.68_69delAG), 5382insC (c.5266dupC), and 6174delT (c.5946delT) — are common in the Ashkenazi Jewish population. We characteri...

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Detalles Bibliográficos
Autores principales: Tennen, Ruth I., Laskey, Sarah B., Koelsch, Bertram L., McIntyre, Matthew H., Tung, Joyce Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203114/
https://www.ncbi.nlm.nih.gov/pubmed/32376921
http://dx.doi.org/10.1038/s41598-020-63466-x