Shona M. Kerr

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.

Apr 6, 2024 | medrxiv.org | Shona M. Kerr |Lucija Klaric |Emma Cowan |Marisa D. Muckian

AS and GT are employees and/or stockholders of Regeneron Genetics Center or Regeneron Pharmaceuticals. This study was funded by the MRC University Unit award to the MRC Human Genetics Unit, University of Edinburgh, MC_UU_00007/10 and a Wellcome Trust Institutional Translational Partnership Award (University of Edinburgh 222060/Z/20/Z -PIII031). LK was supported by an RCUK Innovation Fellowship from the National Productivity Investment Fund (MR/R026408/1).