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dc.contributor.authorDennis, J
dc.contributor.authorTyrer, JP
dc.contributor.authorWalker, LC
dc.contributor.authorMichailidou, K
dc.contributor.authorDorling, L
dc.contributor.authorBolla, MK
dc.contributor.authorWang, Q
dc.contributor.authorAhearn, TU
dc.contributor.authorAndrulis, IL
dc.contributor.authorAnton-Culver, H
dc.contributor.authorAntonenkova, NN
dc.contributor.authorArndt, V
dc.contributor.authorAronson, KJ
dc.contributor.authorFreeman, LEB
dc.contributor.authorBeckmann, MW
dc.contributor.authorBehrens, S
dc.contributor.authorBenitez, J
dc.contributor.authorBermisheva, M
dc.contributor.authorBogdanova, NV
dc.contributor.authorBojesen, SE
dc.contributor.authorBrenner, H
dc.contributor.authorCastelao, JE
dc.contributor.authorChang-Claude, J
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorClarke, CL
dc.contributor.authorNBCS Collaborators
dc.contributor.authorCollée, JM
dc.contributor.authorCTS Consortium
dc.contributor.authorCouch, FJ
dc.contributor.authorCox, A
dc.contributor.authorCross, SS
dc.contributor.authorCzene, K
dc.contributor.authorDevilee, P
dc.contributor.authorDörk, T
dc.contributor.authorDossus, L
dc.contributor.authorEliassen, AH
dc.contributor.authorEriksson, M
dc.contributor.authorEvans, DG
dc.contributor.authorFasching, PA
dc.contributor.authorFigueroa, J
dc.contributor.authorFletcher, O
dc.contributor.authorFlyger, H
dc.contributor.authorFritschi, L
dc.contributor.authorGabrielson, M
dc.contributor.authorGago-Dominguez, M
dc.contributor.authorGarcía-Closas, M
dc.contributor.authorGiles, GG
dc.contributor.authorGonzález-Neira, A
dc.contributor.authorGuénel, P
dc.contributor.authorHahnen, E
dc.contributor.authorHaiman, CA
dc.contributor.authorHall, P
dc.contributor.authorHollestelle, A
dc.contributor.authorHoppe, R
dc.contributor.authorHopper, JL
dc.contributor.authorHowell, A
dc.contributor.authorABCTB Investigators
dc.contributor.authorkConFab/AOCS Investigators
dc.contributor.authorJager, A
dc.contributor.authorJakubowska, A
dc.contributor.authorJohn, EM
dc.contributor.authorJohnson, N
dc.contributor.authorJones, ME
dc.contributor.authorJung, A
dc.contributor.authorKaaks, R
dc.contributor.authorKeeman, R
dc.contributor.authorKhusnutdinova, E
dc.contributor.authorKitahara, CM
dc.contributor.authorKo, Y-D
dc.contributor.authorKosma, V-M
dc.contributor.authorKoutros, S
dc.contributor.authorKraft, P
dc.contributor.authorKristensen, VN
dc.contributor.authorKubelka-Sabit, K
dc.contributor.authorKurian, AW
dc.contributor.authorLacey, JV
dc.contributor.authorLambrechts, D
dc.contributor.authorLarson, NL
dc.contributor.authorLinet, M
dc.contributor.authorOgrodniczak, A
dc.contributor.authorMannermaa, A
dc.contributor.authorManoukian, S
dc.contributor.authorMargolin, S
dc.contributor.authorMavroudis, D
dc.contributor.authorMilne, RL
dc.contributor.authorMuranen, TA
dc.contributor.authorMurphy, RA
dc.contributor.authorNevanlinna, H
dc.contributor.authorOlson, JE
dc.contributor.authorOlsson, H
dc.contributor.authorPark-Simon, T-W
dc.contributor.authorPerou, CM
dc.contributor.authorPeterlongo, P
dc.contributor.authorPlaseska-Karanfilska, D
dc.contributor.authorPylkäs, K
dc.contributor.authorRennert, G
dc.contributor.authorSaloustros, E
dc.contributor.authorSandler, DP
dc.contributor.authorSawyer, EJ
dc.contributor.authorSchmidt, MK
dc.contributor.authorSchmutzler, RK
dc.contributor.authorShibli, R
dc.contributor.authorSmeets, A
dc.contributor.authorSoucy, P
dc.contributor.authorSouthey, MC
dc.contributor.authorSwerdlow, AJ
dc.contributor.authorTamimi, RM
dc.contributor.authorTaylor, JA
dc.contributor.authorTeras, LR
dc.contributor.authorTerry, MB
dc.contributor.authorTomlinson, I
dc.contributor.authorTroester, MA
dc.contributor.authorTruong, T
dc.contributor.authorVachon, CM
dc.contributor.authorWendt, C
dc.contributor.authorWinqvist, R
dc.contributor.authorWolk, A
dc.contributor.authorYang, XR
dc.contributor.authorZheng, W
dc.contributor.authorZiogas, A
dc.contributor.authorSimard, J
dc.contributor.authorDunning, AM
dc.contributor.authorPharoah, PDP
dc.contributor.authorEaston, DF
dc.date.accessioned2022-04-13T09:35:10Z
dc.date.available2022-04-13T09:35:10Z
dc.date.issued2022-01-18
dc.identifier.citationCommunications biology, 2022, 5 (1), pp. 65 - ?en
dc.identifier.issn2399-3642
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/5085
dc.identifier.eissn2399-3642en_US
dc.identifier.eissn2399-3642
dc.identifier.doi10.1038/s42003-021-02990-6en_US
dc.identifier.doi10.1038/s42003-021-02990-6
dc.description.abstractGermline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E-18). Nine other genes were associated with a p-value < 0.01 including known susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and BRCA2 (P = 0.008). Outside the known genes we detected associations with p-values < 0.001 for either overall or subtype-specific breast cancer at nine deletion regions and four duplication regions. Three of the deletion regions were in established common susceptibility loci. To the best of our knowledge, this is the first genome-wide analysis of rare CNVs in a large breast cancer case-control dataset. We detected associations with exonic deletions in established breast cancer susceptibility genes. We also detected suggestive associations with non-coding CNVs in known and novel loci with large effects sizes. Larger sample sizes will be required to reach robust levels of statistical significance.en_US
dc.formatElectronicen_US
dc.format.extent65 - ?en_US
dc.languageengen_US
dc.language.isoengen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.subjectNBCS Collaboratorsen_US
dc.subjectCTS Consortiumen_US
dc.subjectABCTB Investigatorsen_US
dc.subjectkConFab/AOCS Investigatorsen_US
dc.subjectGerm Cellsen_US
dc.subjectHumansen_US
dc.subjectBreast Neoplasmsen_US
dc.subjectRisk Factorsen_US
dc.subjectCase-Control Studiesen_US
dc.subjectGenome, Humanen_US
dc.subjectFemaleen_US
dc.subjectGenome-Wide Association Studyen_US
dc.subjectDNA Copy Number Variationsen_US
dc.titleRare germline copy number variants (CNVs) and breast cancer risk.en
dc.typeJournal Article
dcterms.dateAccepted2021-12-01
rioxxterms.versionVoRen
rioxxterms.versionofrecord10.1038/s42003-021-02990-6en
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0en
rioxxterms.licenseref.startdate2022-01-18
dc.relation.isPartOfCommunications biologyen_US
pubs.issue1en_US
pubs.notesNot knownen_US
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.publication-statusPublisheden_US
pubs.volume5en_US
pubs.embargo.termsNot knownen_US
icr.researchteamFunctional Genetic Epidemiology
icr.researchteamAetiological Epidemiology
dc.contributor.icrauthorJohnson, Nicholaen_US
dc.contributor.icrauthorJones, Michaelen_US


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