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

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 hig...

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Bibliographic Details
Published in:European journal of human genetics : EJHG Vol. 32; no. 12; pp. 1624 - 1631
Main Authors: Kerr, Shona M, Klaric, Lucija, Muckian, Marisa D, Cowan, Emma, Snadden, Lesley, Tzoneva, Gannie, Shuldiner, Alan R, Miedzybrodzka, Zosia, Wilson, James F
Format: Journal Article
Language:English
Published: England Nature Publishing Group 01.12.2024
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ISSN:1018-4813, 1476-5438, 1476-5438
Online Access:Get full text
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