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Clinical case study meets population cohort : Identification of a BRCA1 pathogenic founder variant in Orcadians

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dc.contributor.authorKerr, Shona M.
dc.contributor.authorCowan, Emma
dc.contributor.authorKlaric, Lucija
dc.contributor.authorBell, Christine
dc.contributor.authorO'Sullivan, Dawn
dc.contributor.authorBuchanan, David
dc.contributor.authorGrzymsk, Joseph J.
dc.contributor.authorvan Hout, Cristopher V.
dc.contributor.authorTzoneva, Gannie
dc.contributor.authorShuldiner, Alan R.
dc.contributor.authorWilson, James F
dc.contributor.authorMiedzybrodzka, Zosia
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.contributor.institutionUniversity of Aberdeen.Centre for Health Data Scienceen
dc.contributor.institutionUniversity of Aberdeen.Institute of Medical Sciencesen
dc.date.accessioned2023-06-26T13:45:01Z
dc.date.available2023-06-26T13:45:01Z
dc.date.issued2023-05
dc.descriptionAcknowledgements The study team wish to thank staff from the NHS Grampian genetics team and the ORCADES Study for their contribution to these datasets, in particular, Barbara Gibbons for genetic counselling of family members, the NHS Grampian genomics laboratory team for finding and testing for the variant in the clinically ascertained cases, and Laura Taylor of NHS Grampian and the Public Health Scotland genealogy team for assembling the clinical pedigree. ORCADES DNA extractions were performed at the Edinburgh Clinical Research Facility, University of Edinburgh. ORCADES 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 using records at the General Register Office and study information, building on earlier pedigree work by Ruth McQuillan and Jim Wilson (45). Regeneron Genetics Center performed the exome sequencing. 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. The authors acknowledge the support of the eDRIS Team (Public Health Scotland) for their involvement in obtaining approvals, provisioning and linking this data. We would also like to acknowledge the invaluable contributions of the research nurses in Orkney and the administrative team in Edinburgh. Finally and most importantly, we thank the people of Orkney for their involvement in and ongoing support for our research. Funding: This work was funded by the MRC University Unit award to the MRC Human Genetics Unit, University of Edinburgh, MC_UU_00007/10. LK was supported by an RCUK Innovation Fellowship from the National Productivity Investment Fund (MR/R026408/1). ORCADES was supported by the Chief Scientist Office of the Scottish Government (CZB/4/276 and CZB/4/710), a Royal Society URF to JFW and Arthritis Research UK.en
dc.description.statusPeer revieweden
dc.format.extent7
dc.format.extent1284253
dc.identifier226710052
dc.identifier047ec61e-9d54-4e77-9038-fd245984e281
dc.identifier36927983
dc.identifier85150046021
dc.identifier.citationKerr, S M, Cowan, E, Klaric, L, Bell, C, O'Sullivan, D, Buchanan, D, Grzymsk, J J, van Hout, C V, Tzoneva, G, Shuldiner, A R, Wilson, J F & Miedzybrodzka, Z 2023, 'Clinical case study meets population cohort : Identification of a BRCA1 pathogenic founder variant in Orcadians', European Journal of Human Genetics, vol. 31, pp. 588-595. https://doi.org/10.1038/s41431-023-01297-wen
dc.identifier.doi10.1038/s41431-023-01297-w
dc.identifier.issn1018-4813
dc.identifier.otherORCID: /0000-0003-2890-8136/work/175113351
dc.identifier.urihttps://hdl.handle.net/2164/21004
dc.identifier.vol31en
dc.language.isoeng
dc.relation.ispartofEuropean Journal of Human Geneticsen
dc.subjectSDG 3 - Good Health and Well-beingen
dc.subjectbreast canceren
dc.subjectrare variantsen
dc.subjectR Medicineen
dc.subjectMedical Research Council (MRC)en
dc.subjectMC_UU_00007/10en
dc.subjectMR/R026408/1en
dc.subjectChief Scientist Office (CSO)en
dc.subjectCZB/4/276en
dc.subjectCZB/4/710en
dc.subject.lccRen
dc.titleClinical case study meets population cohort : Identification of a BRCA1 pathogenic founder variant in Orcadiansen
dc.typeJournal articleen

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