Article

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

2024-04-06

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, fou...

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Literature Corpus work: 769b5304-5b18-59a7-96e1-a417b078e82b
DOI: 10.1101/2024.04.03.24305239

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