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Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.

European journal of human genetics : EJHG - 1 Dec 2024

Kerr Shona M, Klaric Lucija, Muckian Marisa D, Cowan Emma, Snadden Lesley, Tzoneva Gannie, Shuldiner Alan R, Miedzybrodzka Zosia, Wilson James F

Abstract excerpt

For breast and ovarian cancer risk assessment in the isolated populations of the Northern Isles of Orkney and Shetland (in Scotland, UK) and their diasporas, quantifying genetically drifted BRCA1 and BRCA2 pathogenic variants is important. Two actionable variants in these genes have reached much higher frequencies than in cosmopolitan UK populations. Here, we report a BRCA2 splice acceptor variant, c.517-2A>G,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39438716
DOI: 10.1038/s41431-024-01704-w
PMCID: PMC11607322

Genes

BRCA1
BRCA2

Variants

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