Show simple item record

dc.contributor.authorLawrenson, Ken_US
dc.contributor.authorKar, Sen_US
dc.contributor.authorMcCue, Ken_US
dc.contributor.authorKuchenbaeker, Ken_US
dc.contributor.authorMichailidou, Ken_US
dc.contributor.authorTyrer, Jen_US
dc.contributor.authorBeesley, Jen_US
dc.contributor.authorRamus, SJen_US
dc.contributor.authorLi, Qen_US
dc.contributor.authorDelgado, MKen_US
dc.contributor.authorLee, JMen_US
dc.contributor.authorAittomäki, Ken_US
dc.contributor.authorAndrulis, ILen_US
dc.contributor.authorAnton-Culver, Hen_US
dc.contributor.authorArndt, Ven_US
dc.contributor.authorArun, BKen_US
dc.contributor.authorArver, Ben_US
dc.contributor.authorBandera, EVen_US
dc.contributor.authorBarile, Men_US
dc.contributor.authorBarkardottir, RBen_US
dc.contributor.authorBarrowdale, Den_US
dc.contributor.authorBeckmann, MWen_US
dc.contributor.authorBenitez, Jen_US
dc.contributor.authorBerchuck, Aen_US
dc.contributor.authorBisogna, Men_US
dc.contributor.authorBjorge, Len_US
dc.contributor.authorBlomqvist, Cen_US
dc.contributor.authorBlot, Wen_US
dc.contributor.authorBogdanova, Nen_US
dc.contributor.authorBojesen, Aen_US
dc.contributor.authorBojesen, SEen_US
dc.contributor.authorBolla, MKen_US
dc.contributor.authorBonanni, Ben_US
dc.contributor.authorBørresen-Dale, ALen_US
dc.contributor.authorBrauch, Hen_US
dc.contributor.authorBrennan, Pen_US
dc.contributor.authorBrenner, Hen_US
dc.contributor.authorBruinsma, Fen_US
dc.contributor.authorBrunet, Jen_US
dc.contributor.authorBuhari, SAen_US
dc.contributor.authorBurwinkel, Ben_US
dc.contributor.authorButzow, Ren_US
dc.contributor.authorBuys, SSen_US
dc.contributor.authorCai, Qen_US
dc.contributor.authorCaldes, Ten_US
dc.contributor.authorCampbell, Ien_US
dc.contributor.authorCanniotto, Ren_US
dc.contributor.authorChang-Claude, Jen_US
dc.contributor.authorChiquette, Jen_US
dc.contributor.authorChoi, JYen_US
dc.contributor.authorClaes, KBen_US
dc.contributor.authorCook, LSen_US
dc.contributor.authorCox, Aen_US
dc.contributor.authorCramer, DWen_US
dc.contributor.authorCross, SSen_US
dc.contributor.authorCybulski, Cen_US
dc.contributor.authorCzene, Ken_US
dc.contributor.authorDaly, MBen_US
dc.contributor.authorDamiola, Fen_US
dc.contributor.authorDansonka-Mieszkowska, Aen_US
dc.contributor.authorDarabi, Hen_US
dc.contributor.authorDennis, Jen_US
dc.contributor.authorDevilee, Pen_US
dc.contributor.authorDiez, Oen_US
dc.contributor.authorDoherty, JAen_US
dc.contributor.authorDomchek, SMen_US
dc.contributor.authorDorfling, CMen_US
dc.contributor.authorDörk, Ten_US
dc.contributor.authorDumont, Men_US
dc.contributor.authorEhrencrona, Hen_US
dc.contributor.authorEjlertsen, Ben_US
dc.contributor.authorEllis, Sen_US
dc.contributor.authorEngel, Cen_US
dc.contributor.authorLee, Een_US
dc.contributor.authorEvans, DGen_US
dc.contributor.authorFasching, PAen_US
dc.contributor.authorFeliubadalo, Len_US
dc.contributor.authorFigueroa, Jen_US
dc.contributor.authorFlesch-Janys, Den_US
dc.contributor.authorFletcher, Oen_US
dc.contributor.authorFlyger, Hen_US
dc.contributor.authorForetova, Len_US
dc.contributor.authorFostira, Fen_US
dc.contributor.authorFoulkes, WDen_US
dc.contributor.authorFridley, BLen_US
dc.contributor.authorFriedman, Een_US
dc.contributor.authorFrost, Den_US
dc.contributor.authorGambino, Gen_US
dc.contributor.authorGanz, PAen_US
dc.contributor.authorGarber, Jen_US
dc.contributor.authorGarcía-Closas, Men_US
dc.contributor.authorGentry-Maharaj, Aen_US
dc.contributor.authorGhoussaini, Men_US
dc.contributor.authorGiles, GGen_US
dc.contributor.authorGlasspool, Ren_US
dc.contributor.authorGodwin, AKen_US
dc.contributor.authorGoldberg, MSen_US
dc.contributor.authorGoldgar, DEen_US
dc.contributor.authorGonzález-Neira, Aen_US
dc.contributor.authorGoode, ELen_US
dc.contributor.authorGoodman, MTen_US
dc.contributor.authorGreene, MHen_US
dc.contributor.authorGronwald, Jen_US
dc.contributor.authorGuénel, Pen_US
dc.contributor.authorHaiman, CAen_US
dc.contributor.authorHall, Pen_US
dc.contributor.authorHallberg, Een_US
dc.contributor.authorHamann, Uen_US
dc.contributor.authorHansen, TVen_US
dc.contributor.authorHarrington, PAen_US
dc.contributor.authorHartman, Men_US
dc.contributor.authorHassan, Nen_US
dc.contributor.authorHealey, Sen_US
dc.contributor.authorHeitz, Fen_US
dc.contributor.authorHerzog, Jen_US
dc.contributor.authorHøgdall, Een_US
dc.contributor.authorHøgdall, CKen_US
dc.contributor.authorHogervorst, FBen_US
dc.contributor.authorHollestelle, Aen_US
dc.contributor.authorHopper, JLen_US
dc.contributor.authorHulick, PJen_US
dc.contributor.authorHuzarski, Ten_US
dc.contributor.authorImyanitov, ENen_US
dc.contributor.authorIsaacs, Cen_US
dc.contributor.authorIto, Hen_US
dc.contributor.authorJakubowska, Aen_US
dc.contributor.authorJanavicius, Ren_US
dc.contributor.authorJensen, Aen_US
dc.contributor.authorJohn, EMen_US
dc.contributor.authorJohnson, Nen_US
dc.contributor.authorKabisch, Men_US
dc.contributor.authorKang, Den_US
dc.contributor.authorKapuscinski, Men_US
dc.contributor.authorKarlan, BYen_US
dc.contributor.authorKhan, Sen_US
dc.contributor.authorKiemeney, LAen_US
dc.contributor.authorKjaer, SKen_US
dc.contributor.authorKnight, JAen_US
dc.contributor.authorKonstantopoulou, Ien_US
dc.contributor.authorKosma, VMen_US
dc.contributor.authorKristensen, Ven_US
dc.contributor.authorKupryjanczyk, Jen_US
dc.contributor.authorKwong, Aen_US
dc.contributor.authorde la Hoya, Men_US
dc.contributor.authorLaitman, Yen_US
dc.contributor.authorLambrechts, Den_US
dc.contributor.authorLe, Nen_US
dc.contributor.authorDe Leeneer, Ken_US
dc.contributor.authorLester, Jen_US
dc.contributor.authorLevine, DAen_US
dc.contributor.authorLi, Jen_US
dc.contributor.authorLindblom, Aen_US
dc.contributor.authorLong, Jen_US
dc.contributor.authorLophatananon, Aen_US
dc.contributor.authorLoud, JTen_US
dc.contributor.authorLu, Ken_US
dc.contributor.authorLubinski, Jen_US
dc.contributor.authorMannermaa, Aen_US
dc.contributor.authorManoukian, Sen_US
dc.contributor.authorLe Marchand, Len_US
dc.contributor.authorMargolin, Sen_US
dc.contributor.authorMarme, Fen_US
dc.contributor.authorMassuger, LFen_US
dc.contributor.authorMatsuo, Ken_US
dc.contributor.authorMazoyer, Sen_US
dc.contributor.authorMcGuffog, Len_US
dc.contributor.authorMcLean, Cen_US
dc.contributor.authorMcNeish, Ien_US
dc.contributor.authorMeindl, Aen_US
dc.contributor.authorMenon, Uen_US
dc.contributor.authorMensenkamp, ARen_US
dc.contributor.authorMilne, RLen_US
dc.contributor.authorMontagna, Men_US
dc.contributor.authorMoysich, KBen_US
dc.contributor.authorMuir, Ken_US
dc.contributor.authorMulligan, AMen_US
dc.contributor.authorNathanson, KLen_US
dc.contributor.authorNess, RBen_US
dc.contributor.authorNeuhausen, SLen_US
dc.contributor.authorNevanlinna, Hen_US
dc.contributor.authorNord, Sen_US
dc.contributor.authorNussbaum, RLen_US
dc.contributor.authorOdunsi, Ken_US
dc.contributor.authorOffit, Ken_US
dc.contributor.authorOlah, Een_US
dc.contributor.authorOlopade, OIen_US
dc.contributor.authorOlson, JEen_US
dc.contributor.authorOlswold, Cen_US
dc.contributor.authorO'Malley, Den_US
dc.contributor.authorOrlow, Ien_US
dc.contributor.authorOrr, Nen_US
dc.contributor.authorOsorio, Aen_US
dc.contributor.authorPark, SKen_US
dc.contributor.authorPearce, CLen_US
dc.contributor.authorPejovic, Ten_US
dc.contributor.authorPeterlongo, Pen_US
dc.contributor.authorPfeiler, Gen_US
dc.contributor.authorPhelan, CMen_US
dc.contributor.authorPoole, EMen_US
dc.contributor.authorPylkäs, Ken_US
dc.contributor.authorRadice, Pen_US
dc.contributor.authorRantala, Jen_US
dc.contributor.authorRashid, MUen_US
dc.contributor.authorRennert, Gen_US
dc.contributor.authorRhenius, Ven_US
dc.contributor.authorRhiem, Ken_US
dc.contributor.authorRisch, HAen_US
dc.contributor.authorRodriguez, Gen_US
dc.contributor.authorRossing, MAen_US
dc.contributor.authorRudolph, Aen_US
dc.contributor.authorSalvesen, HBen_US
dc.contributor.authorSangrajrang, Sen_US
dc.contributor.authorSawyer, EJen_US
dc.contributor.authorSchildkraut, JMen_US
dc.contributor.authorSchmidt, MKen_US
dc.contributor.authorSchmutzler, RKen_US
dc.contributor.authorSellers, TAen_US
dc.contributor.authorSeynaeve, Cen_US
dc.contributor.authorShah, Men_US
dc.contributor.authorShen, CYen_US
dc.contributor.authorShu, XOen_US
dc.contributor.authorSieh, Wen_US
dc.contributor.authorSinger, CFen_US
dc.contributor.authorSinilnikova, OMen_US
dc.contributor.authorSlager, Sen_US
dc.contributor.authorSong, Hen_US
dc.contributor.authorSoucy, Pen_US
dc.contributor.authorSouthey, MCen_US
dc.contributor.authorStenmark-Askmalm, Men_US
dc.contributor.authorStoppa-Lyonnet, Den_US
dc.contributor.authorSutter, Cen_US
dc.contributor.authorSwerdlow, Aen_US
dc.contributor.authorTchatchou, Sen_US
dc.contributor.authorTeixeira, MRen_US
dc.contributor.authorTeo, SHen_US
dc.contributor.authorTerry, KLen_US
dc.contributor.authorTerry, MBen_US
dc.contributor.authorThomassen, Men_US
dc.contributor.authorTibiletti, MGen_US
dc.contributor.authorTihomirova, Len_US
dc.contributor.authorTognazzo, Sen_US
dc.contributor.authorToland, AEen_US
dc.contributor.authorTomlinson, Ien_US
dc.contributor.authorTorres, Den_US
dc.contributor.authorTruong, Ten_US
dc.contributor.authorTseng, CCen_US
dc.contributor.authorTung, Nen_US
dc.contributor.authorTworoger, SSen_US
dc.contributor.authorVachon, Cen_US
dc.contributor.authorvan den Ouweland, AMen_US
dc.contributor.authorvan Doorn, HCen_US
dc.contributor.authorvan Rensburg, EJen_US
dc.contributor.authorVan't Veer, LJen_US
dc.contributor.authorVanderstichele, Aen_US
dc.contributor.authorVergote, Ien_US
dc.contributor.authorVijai, Jen_US
dc.contributor.authorWang, Qen_US
dc.contributor.authorWang-Gohrke, Sen_US
dc.contributor.authorWeitzel, JNen_US
dc.contributor.authorWentzensen, Nen_US
dc.contributor.authorWhittemore, ASen_US
dc.contributor.authorWildiers, Hen_US
dc.contributor.authorWinqvist, Ren_US
dc.contributor.authorWu, AHen_US
dc.contributor.authorYannoukakos, Den_US
dc.contributor.authorYoon, SYen_US
dc.contributor.authorYu, JCen_US
dc.contributor.authorZheng, Wen_US
dc.contributor.authorZheng, Yen_US
dc.contributor.authorKhanna, KKen_US
dc.contributor.authorSimard, Jen_US
dc.contributor.authorMonteiro, ANen_US
dc.contributor.authorFrench, JDen_US
dc.contributor.authorCouch, FJen_US
dc.contributor.authorFreedman, MLen_US
dc.contributor.authorEaston, DFen_US
dc.contributor.authorDunning, AMen_US
dc.contributor.authorPharoah, PDen_US
dc.contributor.authorEdwards, SLen_US
dc.contributor.authorChenevix-Trench, Gen_US
dc.contributor.authorAntoniou, ACen_US
dc.contributor.authorGayther, SAen_US
dc.date.accessioned2016-09-28T09:50:59Z
dc.date.issued2016-01en_US
dc.identifier.citationNature communications, 2016, 7 pp. 12675 - ?en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/125
dc.identifier.eissn2041-1723en_US
dc.identifier.doi10.1038/ncomms12675en_US
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.en_US
dc.formatElectronicen_US
dc.format.extent12675 - ?en_US
dc.languageengen_US
dc.language.isoengen_US
dc.subjectGEMO Study Collaboratorsen_US
dc.subjectEMBRACEen_US
dc.subjectHereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON)en_US
dc.subjectKConFab Investigatorsen_US
dc.subjectAustralian Ovarian Cancer Study Groupen_US
dc.titleFunctional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.en_US
dc.typeJournal Article
dcterms.dateAccepted2016-07-20en_US
rioxxterms.versionofrecord10.1038/ncomms12675en_US
rioxxterms.licenseref.startdate2016-01en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfNature communicationsen_US
pubs.notesNo embargoen_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/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.volume7en_US
pubs.embargo.termsNo embargoen_US
pubs.oa-locationhttp://www.ncbi.nlm.nih.gov/pubmed/27601076en_US
icr.researchteamComplex Trait Geneticsen_US
icr.researchteamFunctional Genetic Epidemiologyen_US
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorSwerdlow, Anthonyen_US
dc.contributor.icrauthorOrr, Nicholasen_US
dc.contributor.icrauthorFletcher, Oliviaen_US


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record