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dc.contributor.authorVigorito, Een_US
dc.contributor.authorKuchenbaecker, KBen_US
dc.contributor.authorBeesley, Jen_US
dc.contributor.authorAdlard, Jen_US
dc.contributor.authorAgnarsson, BAen_US
dc.contributor.authorAndrulis, ILen_US
dc.contributor.authorArun, BKen_US
dc.contributor.authorBarjhoux, Len_US
dc.contributor.authorBelotti, Men_US
dc.contributor.authorBenitez, Jen_US
dc.contributor.authorBerger, Aen_US
dc.contributor.authorBojesen, Aen_US
dc.contributor.authorBonanni, Ben_US
dc.contributor.authorBrewer, Cen_US
dc.contributor.authorCaldes, Ten_US
dc.contributor.authorCaligo, MAen_US
dc.contributor.authorCampbell, Ien_US
dc.contributor.authorChan, SBen_US
dc.contributor.authorClaes, KBMen_US
dc.contributor.authorCohn, DEen_US
dc.contributor.authorCook, Jen_US
dc.contributor.authorDaly, MBen_US
dc.contributor.authorDamiola, Fen_US
dc.contributor.authorDavidson, Ren_US
dc.contributor.authorPauw, ADen_US
dc.contributor.authorDelnatte, Cen_US
dc.contributor.authorDiez, Oen_US
dc.contributor.authorDomchek, SMen_US
dc.contributor.authorDumont, Men_US
dc.contributor.authorDurda, Ken_US
dc.contributor.authorDworniczak, Ben_US
dc.contributor.authorEaston, DFen_US
dc.contributor.authorEccles, Den_US
dc.contributor.authorEdwinsdotter Ardnor, Cen_US
dc.contributor.authorEeles, Ren_US
dc.contributor.authorEjlertsen, Ben_US
dc.contributor.authorEllis, Sen_US
dc.contributor.authorEvans, DGen_US
dc.contributor.authorFeliubadalo, Len_US
dc.contributor.authorFostira, Fen_US
dc.contributor.authorFoulkes, WDen_US
dc.contributor.authorFriedman, Een_US
dc.contributor.authorFrost, Den_US
dc.contributor.authorGaddam, Pen_US
dc.contributor.authorGanz, PAen_US
dc.contributor.authorGarber, Jen_US
dc.contributor.authorGarcia-Barberan, Ven_US
dc.contributor.authorGauthier-Villars, Men_US
dc.contributor.authorGehrig, Aen_US
dc.contributor.authorGerdes, A-Men_US
dc.contributor.authorGiraud, Sen_US
dc.contributor.authorGodwin, AKen_US
dc.contributor.authorGoldgar, DEen_US
dc.contributor.authorHake, CRen_US
dc.contributor.authorHansen, TVOen_US
dc.contributor.authorHealey, Sen_US
dc.contributor.authorHodgson, Sen_US
dc.contributor.authorHogervorst, FBLen_US
dc.contributor.authorHoudayer, Cen_US
dc.contributor.authorHulick, PJen_US
dc.contributor.authorImyanitov, ENen_US
dc.contributor.authorIsaacs, Cen_US
dc.contributor.authorIzatt, Len_US
dc.contributor.authorIzquierdo, Aen_US
dc.contributor.authorJacobs, Len_US
dc.contributor.authorJakubowska, Aen_US
dc.contributor.authorJanavicius, Ren_US
dc.contributor.authorJaworska-Bieniek, Ken_US
dc.contributor.authorJensen, UBen_US
dc.contributor.authorJohn, EMen_US
dc.contributor.authorVijai, Jen_US
dc.contributor.authorKarlan, BYen_US
dc.contributor.authorKast, Ken_US
dc.contributor.authorKConFab Investigatorsen_US
dc.contributor.authorKhan, Sen_US
dc.contributor.authorKwong, Aen_US
dc.contributor.authorLaitman, Yen_US
dc.contributor.authorLester, Jen_US
dc.contributor.authorLesueur, Fen_US
dc.contributor.authorLiljegren, Aen_US
dc.contributor.authorLubinski, Jen_US
dc.contributor.authorMai, PLen_US
dc.contributor.authorManoukian, Sen_US
dc.contributor.authorMazoyer, Sen_US
dc.contributor.authorMeindl, Aen_US
dc.contributor.authorMensenkamp, ARen_US
dc.contributor.authorMontagna, Men_US
dc.contributor.authorNathanson, KLen_US
dc.contributor.authorNeuhausen, SLen_US
dc.contributor.authorNevanlinna, Hen_US
dc.contributor.authorNiederacher, Den_US
dc.contributor.authorOlah, Een_US
dc.contributor.authorOlopade, OIen_US
dc.contributor.authorOng, K-Ren_US
dc.contributor.authorOsorio, Aen_US
dc.contributor.authorPark, SKen_US
dc.contributor.authorPaulsson-Karlsson, Yen_US
dc.contributor.authorPedersen, ISen_US
dc.contributor.authorPeissel, Ben_US
dc.contributor.authorPeterlongo, Pen_US
dc.contributor.authorPfeiler, Gen_US
dc.contributor.authorPhelan, CMen_US
dc.contributor.authorPiedmonte, Men_US
dc.contributor.authorPoppe, Ben_US
dc.contributor.authorPujana, MAen_US
dc.contributor.authorRadice, Pen_US
dc.contributor.authorRennert, Gen_US
dc.contributor.authorRodriguez, GCen_US
dc.contributor.authorRookus, MAen_US
dc.contributor.authorRoss, EAen_US
dc.contributor.authorSchmutzler, RKen_US
dc.contributor.authorSimard, Jen_US
dc.contributor.authorSinger, CFen_US
dc.contributor.authorSlavin, TPen_US
dc.contributor.authorSoucy, Pen_US
dc.contributor.authorSouthey, Men_US
dc.contributor.authorSteinemann, Den_US
dc.contributor.authorStoppa-Lyonnet, Den_US
dc.contributor.authorSukiennicki, Gen_US
dc.contributor.authorSutter, Cen_US
dc.contributor.authorSzabo, CIen_US
dc.contributor.authorTea, M-Ken_US
dc.contributor.authorTeixeira, MRen_US
dc.contributor.authorTeo, S-Hen_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.authorvan Rensburg, EJen_US
dc.contributor.authorVaresco, Len_US
dc.contributor.authorVaron-Mateeva, Ren_US
dc.contributor.authorVratimos, Aen_US
dc.contributor.authorWeitzel, JNen_US
dc.contributor.authorMcGuffog, Len_US
dc.contributor.authorKirk, Jen_US
dc.contributor.authorToland, AEen_US
dc.contributor.authorHamann, Uen_US
dc.contributor.authorLindor, Nen_US
dc.contributor.authorRamus, SJen_US
dc.contributor.authorGreene, MHen_US
dc.contributor.authorCouch, FJen_US
dc.contributor.authorOffit, Ken_US
dc.contributor.authorPharoah, PDPen_US
dc.contributor.authorChenevix-Trench, Gen_US
dc.contributor.authorAntoniou, ACen_US
dc.date.accessioned2016-09-21T10:27:11Z
dc.date.issued2016-01en_US
dc.identifier.citationPloS one, 2016, 11 (7), pp. e0158801 - ?en_US
dc.identifier.issn1932-6203en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/119
dc.identifier.eissn1932-6203en_US
dc.identifier.doi10.1371/journal.pone.0158801en_US
dc.description.abstractPopulation-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.en_US
dc.formatElectronic-eCollectionen_US
dc.format.extente0158801 - ?en_US
dc.languageengen_US
dc.language.isoengen_US
dc.subjectKConFab Investigatorsen_US
dc.subjectChromosomes, Human, Pair 9en_US
dc.subjectHumansen_US
dc.subjectOvarian Neoplasmsen_US
dc.subjectGenetic Predisposition to Diseaseen_US
dc.subjectChromosome Mappingen_US
dc.subjectPolymorphism, Single Nucleotideen_US
dc.subjectGenes, BRCA1en_US
dc.subjectGenes, BRCA2en_US
dc.subjectFemaleen_US
dc.subjectGenetic Carrier Screeningen_US
dc.titleFine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.en_US
dc.typeJournal Article
dcterms.dateAccepted2016-06-22en_US
rioxxterms.versionofrecord10.1371/journal.pone.0158801en_US
rioxxterms.licenseref.startdate2016-01en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfPloS oneen_US
pubs.issue7en_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/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.publication-statusPublisheden_US
pubs.volume11en_US
pubs.embargo.termsNo embargoen_US
icr.researchteamOncogeneticsen_US
dc.contributor.icrauthorEeles, Rosalinden_US


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