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

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dc.contributor.authorKerr, Shona M.
dc.contributor.authorKlaric, Lucija
dc.contributor.authorMuckian, Marisa D.
dc.contributor.authorCowan, Emma
dc.contributor.authorSnadden, Lesley
dc.contributor.authorTzoneva, Gannie
dc.contributor.authorShuldiner, Alan R.
dc.contributor.authorMiedzybrodzka, Zosia
dc.contributor.authorWilson, James F.
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.contributor.institutionUniversity of Aberdeen.Molecular and Cellular Functionen
dc.contributor.institutionUniversity of Aberdeen.Aberdeen Cancer Centreen
dc.contributor.institutionUniversity of Aberdeen.Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Institute of Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Medical Genetics Groupen
dc.date.accessioned2024-11-28T14:54:00Z
dc.date.available2024-11-28T14:54:00Z
dc.date.issued2024-12
dc.descriptionThe study team wish to thank staff from the NHS Grampian genetics team and the Viking Genes Study for their contribution to these datasets. DNA extractions were performed at the Edinburgh Clinical Research Facility, University of Edinburgh. Sanger sequencing was performed by Camilla Drake and the technical services team at the MRC HGU. Emily Weiss and Reka Nagy assembled the ORCADES pedigree, and Barbara Gray the Shetland pedigree, using records at the General Register Office and study information, building on earlier pedigree work by Ruth McQuillan and Jim Wilson. We thank Thibaud Boutin for phasing the GSA chip data and Kiera Johnston for help with analysis of other cancer susceptibility genes. The data in the EHR was provided by patients and collected by the NHS as part of their care and support. We would also like to acknowledge the invaluable contributions of the research nurses in Orkney and Shetland and the administrative team in Edinburgh, and the NHS Grampian genetic counselling team for counselling of the carriers identified in the cohorts. Finally, and most importantly, we thank the people of the Northern Isles for their involvement in and ongoing support for our research.en
dc.description.statusPeer revieweden
dc.format.extent8
dc.format.extent787826
dc.identifier298813541
dc.identifiera8c2ece7-dcda-448a-9ad7-4d784488386b
dc.identifier85206997118
dc.identifier39438716
dc.identifier.citationKerr, S M, Klaric, L, Muckian, M D, Cowan, E, Snadden, L, Tzoneva, G, Shuldiner, A R, Miedzybrodzka, Z & Wilson, J F 2024, 'Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland', European Journal of Human Genetics, vol. 32, no. 12, pp. 1624–1631. https://doi.org/10.1038/s41431-024-01704-wen
dc.identifier.doi10.1038/s41431-024-01704-w
dc.identifier.iss12en
dc.identifier.issn1018-4813
dc.identifier.otherORCID: /0000-0003-2890-8136/work/175113461
dc.identifier.urihttps://hdl.handle.net/2164/24678
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85206997118&partnerID=8YFLogxKen
dc.identifier.vol32en
dc.language.isoeng
dc.relation.ispartofEuropean Journal of Human Geneticsen
dc.subjectSDG 3 - Good Health and Well-beingen
dc.subjectQH426 Geneticsen
dc.subjectRC0254 Neoplasms. Tumors. Oncology (including Cancer)en
dc.subjectGeneticsen
dc.subjectGenetics(clinical)en
dc.subjectSupplementary Informationen
dc.subjectSupplementary Dataen
dc.subjectDASen
dc.subject.lccQH426en
dc.subject.lccRC0254en
dc.titleTwo founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotlanden
dc.typeJournal articleen

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