Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians

We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer families from Orkney in the Northern Isles of Scotland, UK. We sought to investigate the frequency and clinical relevance of this variant in thos...

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Detalles Bibliográficos
Autores principales: Kerr, Shona M., Cowan, Emma, Klaric, Lucija, Bell, Christine, O’Sullivan, Dawn, Buchanan, David, Grzymski, Joseph J., van Hout, Cristopher V., Tzoneva, Gannie, Shuldiner, Alan R., Wilson, James F., Miedzybrodzka, Zosia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172333/
https://www.ncbi.nlm.nih.gov/pubmed/36927983
http://dx.doi.org/10.1038/s41431-023-01297-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172333/
https://www.ncbi.nlm.nih.gov/pubmed/36927983
http://dx.doi.org/10.1038/s41431-023-01297-w

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