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Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

dc.contributor.authorLoveday, C
dc.contributor.authorGarrett, A
dc.contributor.authorLaw, P
dc.contributor.authorHanks, S
dc.contributor.authorPoyastro-Pearson, E
dc.contributor.authorAdlard, J W
dc.contributor.authorBarwell, J
dc.contributor.authorBerg, J
dc.contributor.authorBrady, A F
dc.contributor.authorBrewer, C
dc.contributor.authorChapman, C
dc.contributor.authorCook, J
dc.contributor.authorDavidson, R
dc.contributor.authorDonaldson, A
dc.contributor.authorDouglas, F
dc.contributor.authorGreenhalgh, L
dc.contributor.authorHenderson, A
dc.contributor.authorIzatt, L
dc.contributor.authorKumar, A
dc.contributor.authorLalloo, F
dc.contributor.authorMiedzybrodzka, Z
dc.contributor.authorMorrison, P J
dc.contributor.authorPaterson, J
dc.contributor.authorPorteous, M
dc.contributor.authorRogers, M T
dc.contributor.authorWalker, L
dc.contributor.authorEccles, D
dc.contributor.authorEvans, D G
dc.contributor.authorSnape, K
dc.contributor.authorHanson, H
dc.contributor.authorHoulston, R S
dc.contributor.authorTurnbull, C
dc.contributor.authorBreast and Ovarian Cancer Susceptibility Collaboration
dc.date.accessioned2023-12-21T00:04:39Z
dc.date.available2023-12-21T00:04:39Z
dc.date.issued2022-12
dc.identifier220548396
dc.identifier03b9c4a9-5ab6-4bdf-911e-86e8f3d03efa
dc.identifier36122798
dc.identifier85141320959
dc.identifier.citationLoveday , C , Garrett , A , Law , P , Hanks , S , Poyastro-Pearson , E , Adlard , J W , Barwell , J , Berg , J , Brady , A F , Brewer , C , Chapman , C , Cook , J , Davidson , R , Donaldson , A , Douglas , F , Greenhalgh , L , Henderson , A , Izatt , L , Kumar , A , Lalloo , F , Miedzybrodzka , Z , Morrison , P J , Paterson , J , Porteous , M , Rogers , M T , Walker , L , Eccles , D , Evans , D G , Snape , K , Hanson , H , Houlston , R S , Turnbull , C & Breast and Ovarian Cancer Susceptibility Collaboration 2022 , ' Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ' , Annals of Oncology , vol. 33 , no. 12 , pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152en
dc.identifier.issn0923-7534
dc.identifier.urihttp://aura-test.abdn.ac.uk/handle/2164/20022
dc.descriptionAcknowledgements We thank all the subjects and families that participated in the research. We thank those at the ICR, past and present, for their assistance in patient recruitment, sample management, and management of the sequencing facility. We are grateful to all the clinicians and counsellors in The Breast and Ovarian Cancer Susceptibility Collaboration who have contributed to the recruitment and collection of samples. The full list of contributors is provided in the Appendix. Funding This work was supported by Cancer Research UK [grants numbers C8620/A8372, C8620/A8857]; the Institute of Cancer Research (no grant number); NHS to the Institute of Cancer Research and Royal Marsden ras part of a joint entity referred to as the National Institute of Health Research Specialist Biomedical Research Centre for Cancer.en
dc.format.extent9
dc.format.extent633949
dc.language.isoeng
dc.relation.ispartofAnnals of Oncologyen
dc.subjectSDG 3 - Good Health and Well-beingen
dc.subjectbreast canceren
dc.subjectgenetic susceptibilityen
dc.subjectCANCER SUSCEPTIBILITY GENEen
dc.subjectwhole-exome sequencingen
dc.subjectrare-variant burden testingen
dc.subjectR Medicineen
dc.subjectRC0254 Neoplasms. Tumors. Oncology (including Cancer)en
dc.subjectCancer Research UKen
dc.subjectC8620/A8372en
dc.subjectC8620/A8857en
dc.subjectSupplementary Dataen
dc.subject.lccRen
dc.subject.lccRC0254en
dc.titleAnalysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genesen
dc.typeJournal articleen
dc.contributor.institutionUniversity of Aberdeen.Centre for Health Data Scienceen
dc.contributor.institutionUniversity of Aberdeen.Grampian Data Safe Haven (DaSH)en
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.contributor.institutionUniversity of Aberdeen.Institute of Medical Sciencesen
dc.description.statusPeer revieweden
dc.identifier.doihttps://doi.org/10.1016/j.annonc.2022.09.152
dc.identifier.vol33en
dc.identifier.iss12en


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