Zosia Miedzybrodzka

Oct 21, 2024 | nature.com | Shona M. Kerr |Lucija Klaric |Emma Cowan |Zosia Miedzybrodzka

AbstractFor 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, found in breast and ovarian cancer families from Shetland.