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

European journal of human genetics : EJHG - 1 May 2023

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

Abstract excerpt

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 those of Orcadian ancestry as an exemplar of the value of population cohorts in clinical care, especially in isolated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36927983
DOI: 10.1038/s41431-023-01297-w
PMCID: PMC10172333

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