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dc.contributor.authorLawrenson, K
dc.contributor.authorKar, S
dc.contributor.authorMcCue, K
dc.contributor.authorKuchenbaeker, K
dc.contributor.authorMichailidou, K
dc.contributor.authorTyrer, J
dc.contributor.authorBeesley, J
dc.contributor.authorRamus, SJ
dc.contributor.authorLi, Q
dc.contributor.authorDelgado, MK
dc.contributor.authorLee, JM
dc.contributor.authorAittomäki, K
dc.contributor.authorAndrulis, IL
dc.contributor.authorAnton-Culver, H
dc.contributor.authorArndt, V
dc.contributor.authorArun, BK
dc.contributor.authorArver, B
dc.contributor.authorBandera, EV
dc.contributor.authorBarile, M
dc.contributor.authorBarkardottir, RB
dc.contributor.authorBarrowdale, D
dc.contributor.authorBeckmann, MW
dc.contributor.authorBenitez, J
dc.contributor.authorBerchuck, A
dc.contributor.authorBisogna, M
dc.contributor.authorBjorge, L
dc.contributor.authorBlomqvist, C
dc.contributor.authorBlot, W
dc.contributor.authorBogdanova, N
dc.contributor.authorBojesen, A
dc.contributor.authorBojesen, SE
dc.contributor.authorBolla, MK
dc.contributor.authorBonanni, B
dc.contributor.authorBørresen-Dale, A-L
dc.contributor.authorBrauch, H
dc.contributor.authorBrennan, P
dc.contributor.authorBrenner, H
dc.contributor.authorBruinsma, F
dc.contributor.authorBrunet, J
dc.contributor.authorBuhari, SA
dc.contributor.authorBurwinkel, B
dc.contributor.authorButzow, R
dc.contributor.authorBuys, SS
dc.contributor.authorCai, Q
dc.contributor.authorCaldes, T
dc.contributor.authorCampbell, I
dc.contributor.authorCanniotto, R
dc.contributor.authorChang-Claude, J
dc.contributor.authorChiquette, J
dc.contributor.authorChoi, J-Y
dc.contributor.authorClaes, KBM
dc.contributor.authorGEMO Study Collaborators,
dc.contributor.authorCook, LS
dc.contributor.authorCox, A
dc.contributor.authorCramer, DW
dc.contributor.authorCross, SS
dc.contributor.authorCybulski, C
dc.contributor.authorCzene, K
dc.contributor.authorDaly, MB
dc.contributor.authorDamiola, F
dc.contributor.authorDansonka-Mieszkowska, A
dc.contributor.authorDarabi, H
dc.contributor.authorDennis, J
dc.contributor.authorDevilee, P
dc.contributor.authorDiez, O
dc.contributor.authorDoherty, JA
dc.contributor.authorDomchek, SM
dc.contributor.authorDorfling, CM
dc.contributor.authorDörk, T
dc.contributor.authorDumont, M
dc.contributor.authorEhrencrona, H
dc.contributor.authorEjlertsen, B
dc.contributor.authorEllis, S
dc.contributor.authorEMBRACE,
dc.contributor.authorEngel, C
dc.contributor.authorLee, E
dc.contributor.authorEvans, DG
dc.contributor.authorFasching, PA
dc.contributor.authorFeliubadalo, L
dc.contributor.authorFigueroa, J
dc.contributor.authorFlesch-Janys, D
dc.contributor.authorFletcher, O
dc.contributor.authorFlyger, H
dc.contributor.authorForetova, L
dc.contributor.authorFostira, F
dc.contributor.authorFoulkes, WD
dc.contributor.authorFridley, BL
dc.contributor.authorFriedman, E
dc.contributor.authorFrost, D
dc.contributor.authorGambino, G
dc.contributor.authorGanz, PA
dc.contributor.authorGarber, J
dc.contributor.authorGarcía-Closas, M
dc.contributor.authorGentry-Maharaj, A
dc.contributor.authorGhoussaini, M
dc.contributor.authorGiles, GG
dc.contributor.authorGlasspool, R
dc.contributor.authorGodwin, AK
dc.contributor.authorGoldberg, MS
dc.contributor.authorGoldgar, DE
dc.contributor.authorGonzález-Neira, A
dc.contributor.authorGoode, EL
dc.contributor.authorGoodman, MT
dc.contributor.authorGreene, MH
dc.contributor.authorGronwald, J
dc.contributor.authorGuénel, P
dc.contributor.authorHaiman, CA
dc.contributor.authorHall, P
dc.contributor.authorHallberg, E
dc.contributor.authorHamann, U
dc.contributor.authorHansen, TVO
dc.contributor.authorHarrington, PA
dc.contributor.authorHartman, M
dc.contributor.authorHassan, N
dc.contributor.authorHealey, S
dc.contributor.authorHereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON),
dc.contributor.authorHeitz, F
dc.contributor.authorHerzog, J
dc.contributor.authorHøgdall, E
dc.contributor.authorHøgdall, CK
dc.contributor.authorHogervorst, FBL
dc.contributor.authorHollestelle, A
dc.contributor.authorHopper, JL
dc.contributor.authorHulick, PJ
dc.contributor.authorHuzarski, T
dc.contributor.authorImyanitov, EN
dc.contributor.authorKConFab Investigators,
dc.contributor.authorAustralian Ovarian Cancer Study Group,
dc.contributor.authorIsaacs, C
dc.contributor.authorIto, H
dc.contributor.authorJakubowska, A
dc.contributor.authorJanavicius, R
dc.contributor.authorJensen, A
dc.contributor.authorJohn, EM
dc.contributor.authorJohnson, N
dc.contributor.authorKabisch, M
dc.contributor.authorKang, D
dc.contributor.authorKapuscinski, M
dc.contributor.authorKarlan, BY
dc.contributor.authorKhan, S
dc.contributor.authorKiemeney, LA
dc.contributor.authorKjaer, SK
dc.contributor.authorKnight, JA
dc.contributor.authorKonstantopoulou, I
dc.contributor.authorKosma, V-M
dc.contributor.authorKristensen, V
dc.contributor.authorKupryjanczyk, J
dc.contributor.authorKwong, A
dc.contributor.authorde la Hoya, M
dc.contributor.authorLaitman, Y
dc.contributor.authorLambrechts, D
dc.contributor.authorLe, N
dc.contributor.authorDe Leeneer, K
dc.contributor.authorLester, J
dc.contributor.authorLevine, DA
dc.contributor.authorLi, J
dc.contributor.authorLindblom, A
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dc.contributor.authorLoud, JT
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dc.contributor.authorLubinski, J
dc.contributor.authorMannermaa, A
dc.contributor.authorManoukian, S
dc.contributor.authorLe Marchand, L
dc.contributor.authorMargolin, S
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dc.contributor.authorMassuger, LFAG
dc.contributor.authorMatsuo, K
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dc.contributor.authorMeindl, A
dc.contributor.authorMenon, U
dc.contributor.authorMensenkamp, AR
dc.contributor.authorMilne, RL
dc.contributor.authorMontagna, M
dc.contributor.authorMoysich, KB
dc.contributor.authorMuir, K
dc.contributor.authorMulligan, AM
dc.contributor.authorNathanson, KL
dc.contributor.authorNess, RB
dc.contributor.authorNeuhausen, SL
dc.contributor.authorNevanlinna, H
dc.contributor.authorNord, S
dc.contributor.authorNussbaum, RL
dc.contributor.authorOdunsi, K
dc.contributor.authorOffit, K
dc.contributor.authorOlah, E
dc.contributor.authorOlopade, OI
dc.contributor.authorOlson, JE
dc.contributor.authorOlswold, C
dc.contributor.authorO'Malley, D
dc.contributor.authorOrlow, I
dc.contributor.authorOrr, N
dc.contributor.authorOsorio, A
dc.contributor.authorPark, SK
dc.contributor.authorPearce, CL
dc.contributor.authorPejovic, T
dc.contributor.authorPeterlongo, P
dc.contributor.authorPfeiler, G
dc.contributor.authorPhelan, CM
dc.contributor.authorPoole, EM
dc.contributor.authorPylkäs, K
dc.contributor.authorRadice, P
dc.contributor.authorRantala, J
dc.contributor.authorRashid, MU
dc.contributor.authorRennert, G
dc.contributor.authorRhenius, V
dc.contributor.authorRhiem, K
dc.contributor.authorRisch, HA
dc.contributor.authorRodriguez, G
dc.contributor.authorRossing, MA
dc.contributor.authorRudolph, A
dc.contributor.authorSalvesen, HB
dc.contributor.authorSangrajrang, S
dc.contributor.authorSawyer, EJ
dc.contributor.authorSchildkraut, JM
dc.contributor.authorSchmidt, MK
dc.contributor.authorSchmutzler, RK
dc.contributor.authorSellers, TA
dc.contributor.authorSeynaeve, C
dc.contributor.authorShah, M
dc.contributor.authorShen, C-Y
dc.contributor.authorShu, X-O
dc.contributor.authorSieh, W
dc.contributor.authorSinger, CF
dc.contributor.authorSinilnikova, OM
dc.contributor.authorSlager, S
dc.contributor.authorSong, H
dc.contributor.authorSoucy, P
dc.contributor.authorSouthey, MC
dc.contributor.authorStenmark-Askmalm, M
dc.contributor.authorStoppa-Lyonnet, D
dc.contributor.authorSutter, C
dc.contributor.authorSwerdlow, A
dc.contributor.authorTchatchou, S
dc.contributor.authorTeixeira, MR
dc.contributor.authorTeo, SH
dc.contributor.authorTerry, KL
dc.contributor.authorTerry, MB
dc.contributor.authorThomassen, M
dc.contributor.authorTibiletti, MG
dc.contributor.authorTihomirova, L
dc.contributor.authorTognazzo, S
dc.contributor.authorToland, AE
dc.contributor.authorTomlinson, I
dc.contributor.authorTorres, D
dc.contributor.authorTruong, T
dc.contributor.authorTseng, C-C
dc.contributor.authorTung, N
dc.contributor.authorTworoger, SS
dc.contributor.authorVachon, C
dc.contributor.authorvan den Ouweland, AMW
dc.contributor.authorvan Doorn, HC
dc.contributor.authorvan Rensburg, EJ
dc.contributor.authorVan't Veer, LJ
dc.contributor.authorVanderstichele, A
dc.contributor.authorVergote, I
dc.contributor.authorVijai, J
dc.contributor.authorWang, Q
dc.contributor.authorWang-Gohrke, S
dc.contributor.authorWeitzel, JN
dc.contributor.authorWentzensen, N
dc.contributor.authorWhittemore, AS
dc.contributor.authorWildiers, H
dc.contributor.authorWinqvist, R
dc.contributor.authorWu, AH
dc.contributor.authorYannoukakos, D
dc.contributor.authorYoon, S-Y
dc.contributor.authorYu, J-C
dc.contributor.authorZheng, W
dc.contributor.authorZheng, Y
dc.contributor.authorKhanna, KK
dc.contributor.authorSimard, J
dc.contributor.authorMonteiro, AN
dc.contributor.authorFrench, JD
dc.contributor.authorCouch, FJ
dc.contributor.authorFreedman, ML
dc.contributor.authorEaston, DF
dc.contributor.authorDunning, AM
dc.contributor.authorPharoah, PD
dc.contributor.authorEdwards, SL
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorAntoniou, AC
dc.contributor.authorGayther, SA
dc.date.accessioned2016-09-28T09:50:59Z
dc.date.issued2016-09-07
dc.identifier.citationNature communications, 2016, 7 pp. 12675 - ?
dc.identifier.issn2041-1723
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/125
dc.identifier.eissn2041-1723
dc.identifier.doi10.1038/ncomms12675
dc.description.abstractA locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
dc.formatElectronic
dc.format.extent12675 - ?
dc.languageeng
dc.language.isoeng
dc.publisherNATURE PORTFOLIO
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectGEMO Study Collaborators
dc.subjectEMBRACE
dc.subjectHereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON)
dc.subjectKConFab Investigators
dc.subjectAustralian Ovarian Cancer Study Group
dc.subjectChromosomes, Human, Pair 19
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectOvarian Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectRNA, Messenger
dc.subjectGenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectAlleles
dc.subjectAfrican Continental Ancestry Group
dc.subjectAsian Continental Ancestry Group
dc.subjectFemale
dc.subjectGenome-Wide Association Study
dc.titleFunctional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
dc.typeJournal Article
dcterms.dateAccepted2016-07-20
rioxxterms.versionofrecord10.1038/ncomms12675
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2016-09-07
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfNature communications
pubs.notesNo embargo
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/Complex Trait Genetics
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-statusPublished
pubs.volume7
pubs.embargo.termsNo embargo
pubs.oa-locationhttp://www.ncbi.nlm.nih.gov/pubmed/27601076
icr.researchteamComplex Trait Genetics
icr.researchteamFunctional Genetic Epidemiology
icr.researchteamAetiological Epidemiology
dc.contributor.icrauthorFletcher, Olivia
dc.contributor.icrauthorSwerdlow, Anthony


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