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dc.contributor.authorDennis, Joe
dc.contributor.authorTyrer, Jonathan
dc.contributor.authorWalker, Logan C
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorWilson, Leila
dc.contributor.authorBolla, Manjeet K
dc.contributor.authorWang, Jean
dc.contributor.authorAhearn, Thomas U
dc.contributor.authorAndrulis, Irene L
dc.contributor.authorAnton-Culver, Hoda
dc.contributor.authorAntonenkova, Natalia N
dc.contributor.authorArndt, Volker
dc.contributor.authorAronson, Kristan J
dc.contributor.authorFreeman, Laura E Beane
dc.contributor.authorBeckmann, Matthias W
dc.contributor.authorBehrens, Sabine
dc.contributor.authorBenitez, Javier
dc.contributor.authorBermisheva, Marina
dc.contributor.authorBogdanova, Natalia V
dc.contributor.authorBojesen, Stig E
dc.contributor.authorBrenner, Hermann
dc.contributor.authorCastelao, Jose E
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorClarke, Christine L
dc.contributor.authorNBCS Collaborators
dc.contributor.authorCollée, J Margriet
dc.contributor.authorCTS Consortium
dc.contributor.authorCouch, Fergus J
dc.contributor.authorCox, Angela
dc.contributor.authorCross, Simon S
dc.contributor.authorCzene, Kamila
dc.contributor.authorDevilee, Peter
dc.contributor.authorDörk, Thilo
dc.contributor.authorDossus, Laure
dc.contributor.authorEliassen, A Heather
dc.contributor.authorEriksson, Mikael
dc.contributor.authorEvans, D Gareth
dc.contributor.authorFasching, Peter A
dc.contributor.authorFigueroa, Jonine
dc.contributor.authorFletcher, Olivia
dc.contributor.authorFlyger, Henrik
dc.contributor.authorFritschi, Lin
dc.contributor.authorGabrielson, Marike
dc.contributor.authorGago-Dominguez, Manuela
dc.contributor.authorGarcía-Closas, Montserrat
dc.contributor.authorGiles, Graham G
dc.contributor.authorGonzález-Neira, Anna
dc.contributor.authorGuénel, Pascal
dc.contributor.authorHahnen, Eric
dc.contributor.authorHaiman, Christopher A
dc.contributor.authorHall, Per
dc.contributor.authorHollestelle, Antoinette
dc.contributor.authorHoppe, Reiner
dc.contributor.authorHopper, John L
dc.contributor.authorHowell, Anthony
dc.contributor.authorABCTB Investigators
dc.contributor.authorkConFab/AOCS Investigators
dc.contributor.authorJager, Agnes
dc.contributor.authorJakubowska, Anna
dc.contributor.authorJohn, Esther M
dc.contributor.authorJohnson, Nichola
dc.contributor.authorJones, Michael E
dc.contributor.authorJung, Audrey
dc.contributor.authorKaaks, Rudolf
dc.contributor.authorKeeman, Renske
dc.contributor.authorKhusnutdinova, Elza
dc.contributor.authorKitahara, Cari M
dc.contributor.authorKo, Yon-Dschun
dc.contributor.authorKosma, Veli-Matti
dc.contributor.authorKoutros, Stella
dc.contributor.authorKraft, Peter
dc.contributor.authorKristensen, Vessela N
dc.contributor.authorKubelka-Sabit, Katerina
dc.contributor.authorKurian, Allison W
dc.contributor.authorLacey, James V
dc.contributor.authorLambrechts, Diether
dc.contributor.authorLarson, Nicole L
dc.contributor.authorLinet, Martha
dc.contributor.authorOgrodniczak, Alicja
dc.contributor.authorMannermaa, Arto
dc.contributor.authorManoukian, Siranoush
dc.contributor.authorMargolin, Sara
dc.contributor.authorMavroudis, Dimitrios
dc.contributor.authorMilne, Roger L
dc.contributor.authorMuranen, Taru A
dc.contributor.authorMurphy, Rachel A
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorOlson, Janet E
dc.contributor.authorOlsson, Håkan
dc.contributor.authorPark-Simon, Tjoung-Won
dc.contributor.authorPerou, Charles M
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorPlaseska-Karanfilska, Dijana
dc.contributor.authorPylkäs, Katri
dc.contributor.authorRennert, Gad
dc.contributor.authorSaloustros, Emmanouil
dc.contributor.authorSandler, Dale P
dc.contributor.authorSawyer, Elinor J
dc.contributor.authorSchmidt, Marjanka K
dc.contributor.authorSchmutzler, Rita K
dc.contributor.authorShibli, Rana
dc.contributor.authorSmeets, Ann
dc.contributor.authorSoucy, Penny
dc.contributor.authorSouthey, Melissa C
dc.contributor.authorSwerdlow, Anthony J
dc.contributor.authorTamimi, Rulla M
dc.contributor.authorTaylor, Jack A
dc.contributor.authorTeras, Lauren R
dc.contributor.authorTerry, Mary Beth
dc.contributor.authorTomlinson, Ian
dc.contributor.authorTroester, Melissa A
dc.contributor.authorTruong, Thérèse
dc.contributor.authorVachon, Celine M
dc.contributor.authorWendt, Camilla
dc.contributor.authorWinqvist, Robert
dc.contributor.authorWolk, Alicja
dc.contributor.authorYang, Xiaohong R
dc.contributor.authorZheng, Wei
dc.contributor.authorZiogas, Argyrios
dc.contributor.authorSimard, Jacques
dc.contributor.authorDunning, Alison
dc.contributor.authorPharoah, Paul
dc.contributor.authorEaston, Douglas
dc.date.accessioned2022-01-28T16:34:59Z
dc.date.available2022-01-28T16:34:59Z
dc.date.issued2022-01-18
dc.date.submitted2021-06-08
dc.identifier.issn2399-3642
dc.identifier.others42003-021-02990-6
dc.identifier.other2990
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/333150
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.
dc.languageen
dc.publisherSpringer Science and Business Media LLC
dc.subjectArticle
dc.subject/631/67/1347
dc.subject/631/208/205/2138
dc.subject/45/43
dc.subjectarticle
dc.titleRare germline copy number variants (CNVs) and breast cancer risk.
dc.typeArticle
dc.date.updated2022-01-28T16:34:58Z
prism.issueIdentifier1
prism.publicationNameCommun Biol
prism.volume5
dc.identifier.doi10.17863/CAM.80573
dcterms.dateAccepted2021-12-01
rioxxterms.versionofrecord10.1038/s42003-021-02990-6
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidDennis, Joe [0000-0003-4591-1214]
dc.contributor.orcidTyrer, Jonathan [0000-0003-3724-4757]
dc.contributor.orcidWalker, Logan C [0000-0003-0018-3719]
dc.contributor.orcidMichailidou, Kyriaki [0000-0001-7065-1237]
dc.contributor.orcidWilson, Leila [0000-0003-1214-8080]
dc.contributor.orcidWang, Jean [0000-0002-9139-0627]
dc.contributor.orcidAndrulis, Irene L [0000-0002-4226-6435]
dc.contributor.orcidArndt, Volker [0000-0001-9320-8684]
dc.contributor.orcidAronson, Kristan J [0000-0002-7865-7243]
dc.contributor.orcidBehrens, Sabine [0000-0002-9714-104X]
dc.contributor.orcidDörk, Thilo [0000-0002-9458-0282]
dc.contributor.orcidDossus, Laure [0000-0003-2716-5748]
dc.contributor.orcidFigueroa, Jonine [0000-0002-5100-623X]
dc.contributor.orcidFritschi, Lin [0000-0002-7692-3560]
dc.contributor.orcidGiles, Graham G [0000-0003-4946-9099]
dc.contributor.orcidHollestelle, Antoinette [0000-0003-1166-1966]
dc.contributor.orcidJakubowska, Anna [0000-0002-5650-0501]
dc.contributor.orcidJohnson, Nichola [0000-0002-8230-5662]
dc.contributor.orcidJones, Michael E [0000-0001-7479-3451]
dc.contributor.orcidKeeman, Renske [0000-0002-5452-9933]
dc.contributor.orcidKristensen, Vessela N [0000-0001-5012-7438]
dc.contributor.orcidLarson, Nicole L [0000-0002-2129-6934]
dc.contributor.orcidMilne, Roger L [0000-0001-5764-7268]
dc.contributor.orcidNevanlinna, Heli [0000-0002-0916-2976]
dc.contributor.orcidOlson, Janet E [0000-0003-4944-7789]
dc.contributor.orcidPeterlongo, Paolo [0000-0001-6951-6855]
dc.contributor.orcidPlaseska-Karanfilska, Dijana [0000-0001-8877-2416]
dc.contributor.orcidPylkäs, Katri [0000-0002-2449-0521]
dc.contributor.orcidRennert, Gad [0000-0002-8512-068X]
dc.contributor.orcidTomlinson, Ian [0000-0003-3037-1470]
dc.contributor.orcidTruong, Thérèse [0000-0002-2943-6786]
dc.contributor.orcidVachon, Celine M [0000-0002-1962-9322]
dc.contributor.orcidWolk, Alicja [0000-0001-7387-6845]
dc.contributor.orcidZiogas, Argyrios [0000-0003-4529-3727]
dc.contributor.orcidSimard, Jacques [0000-0001-6906-3390]
dc.contributor.orcidDunning, Alison [0000-0001-6651-7166]
dc.contributor.orcidPharoah, Paul [0000-0001-8494-732X]
dc.contributor.orcidEaston, Douglas [0000-0003-2444-3247]
dc.identifier.eissn2399-3642
pubs.funder-project-idCancer Research UK (CRUK-A16563)
pubs.funder-project-idMedical Research Council (G1000143)
pubs.funder-project-idNational Cancer Institute (U19CA148537)
pubs.funder-project-idNational Cancer Institute (R01CA128978)
pubs.funder-project-idNational Cancer Institute (U19CA148065)
pubs.funder-project-idCancer Research UK (CRUK-A10710)
pubs.funder-project-idCancer Research UK (CRUK-A12014)
pubs.funder-project-idCancer Research UK (CRUK-A10118)
cam.issuedOnline2022-01-18


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