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

Loveday, CGarrett, ALaw, PHanks, SPoyastro-Pearson, EAdlard, J WBarwell, JBerg, JBrady, A FBrewer, CChapman, CCook, JDavidson, RDonaldson, ADouglas, FGreenhalgh, LHenderson, AIzatt, LKumar, ALalloo, FMiedzybrodzka, ZMorrison, P JPaterson, JPorteous, MRogers, M TWalker, LEccles, DEvans, D GSnape, KHanson, HHoulston, R STurnbull, CBreast and Ovarian Cancer Susceptibility Collaboration2023-02-132023-02-132022-12Loveday, 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.2022.09.1520923-7534ORCID: /0000-0003-2890-8136/work/175113318https://hdl.handle.net/2164/20022Acknowledgements 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.9633949engSDG 3 - Good Health and Well-beingbreast cancergenetic susceptibilityCANCER SUSCEPTIBILITY GENEwhole-exome sequencingrare-variant burden testingR MedicineRC0254 Neoplasms. Tumors. Oncology (including Cancer)Cancer Research UKC8620/A8372C8620/A8857Supplementary DataRRC0254Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genesJournal article10.1016/j.annonc.2022.09.1523312