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dc.contributor.authorVigorito, E
dc.contributor.authorKuchenbaecker, KB
dc.contributor.authorBeesley, J
dc.contributor.authorAdlard, J
dc.contributor.authorAgnarsson, BA
dc.contributor.authorAndrulis, IL
dc.contributor.authorArun, BK
dc.contributor.authorBarjhoux, L
dc.contributor.authorBelotti, M
dc.contributor.authorBenitez, J
dc.contributor.authorBerger, A
dc.contributor.authorBojesen, A
dc.contributor.authorBonanni, B
dc.contributor.authorBrewer, C
dc.contributor.authorCaldes, T
dc.contributor.authorCaligo, MA
dc.contributor.authorCampbell, I
dc.contributor.authorChan, SB
dc.contributor.authorClaes, KBM
dc.contributor.authorCohn, DE
dc.contributor.authorCook, J
dc.contributor.authorDaly, MB
dc.contributor.authorDamiola, F
dc.contributor.authorDavidson, R
dc.contributor.authorPauw, AD
dc.contributor.authorDelnatte, C
dc.contributor.authorDiez, O
dc.contributor.authorDomchek, SM
dc.contributor.authorDumont, M
dc.contributor.authorDurda, K
dc.contributor.authorDworniczak, B
dc.contributor.authorEaston, DF
dc.contributor.authorEccles, D
dc.contributor.authorEdwinsdotter Ardnor, C
dc.contributor.authorEeles, R
dc.contributor.authorEjlertsen, B
dc.contributor.authorEllis, S
dc.contributor.authorEvans, DG
dc.contributor.authorFeliubadalo, L
dc.contributor.authorFostira, F
dc.contributor.authorFoulkes, WD
dc.contributor.authorFriedman, E
dc.contributor.authorFrost, D
dc.contributor.authorGaddam, P
dc.contributor.authorGanz, PA
dc.contributor.authorGarber, J
dc.contributor.authorGarcia-Barberan, V
dc.contributor.authorGauthier-Villars, M
dc.contributor.authorGehrig, A
dc.contributor.authorGerdes, A-M
dc.contributor.authorGiraud, S
dc.contributor.authorGodwin, AK
dc.contributor.authorGoldgar, DE
dc.contributor.authorHake, CR
dc.contributor.authorHansen, TVO
dc.contributor.authorHealey, S
dc.contributor.authorHodgson, S
dc.contributor.authorHogervorst, FBL
dc.contributor.authorHoudayer, C
dc.contributor.authorHulick, PJ
dc.contributor.authorImyanitov, EN
dc.contributor.authorIsaacs, C
dc.contributor.authorIzatt, L
dc.contributor.authorIzquierdo, A
dc.contributor.authorJacobs, L
dc.contributor.authorJakubowska, A
dc.contributor.authorJanavicius, R
dc.contributor.authorJaworska-Bieniek, K
dc.contributor.authorJensen, UB
dc.contributor.authorJohn, EM
dc.contributor.authorVijai, J
dc.contributor.authorKarlan, BY
dc.contributor.authorKast, K
dc.contributor.authorKConFab Investigators
dc.contributor.authorKhan, S
dc.contributor.authorKwong, A
dc.contributor.authorLaitman, Y
dc.contributor.authorLester, J
dc.contributor.authorLesueur, F
dc.contributor.authorLiljegren, A
dc.contributor.authorLubinski, J
dc.contributor.authorMai, PL
dc.contributor.authorManoukian, S
dc.contributor.authorMazoyer, S
dc.contributor.authorMeindl, A
dc.contributor.authorMensenkamp, AR
dc.contributor.authorMontagna, M
dc.contributor.authorNathanson, KL
dc.contributor.authorNeuhausen, SL
dc.contributor.authorNevanlinna, H
dc.contributor.authorNiederacher, D
dc.contributor.authorOlah, E
dc.contributor.authorOlopade, OI
dc.contributor.authorOng, K-R
dc.contributor.authorOsorio, A
dc.contributor.authorPark, SK
dc.contributor.authorPaulsson-Karlsson, Y
dc.contributor.authorPedersen, IS
dc.contributor.authorPeissel, B
dc.contributor.authorPeterlongo, P
dc.contributor.authorPfeiler, G
dc.contributor.authorPhelan, CM
dc.contributor.authorPiedmonte, M
dc.contributor.authorPoppe, B
dc.contributor.authorPujana, MA
dc.contributor.authorRadice, P
dc.contributor.authorRennert, G
dc.contributor.authorRodriguez, GC
dc.contributor.authorRookus, MA
dc.contributor.authorRoss, EA
dc.contributor.authorSchmutzler, RK
dc.contributor.authorSimard, J
dc.contributor.authorSinger, CF
dc.contributor.authorSlavin, TP
dc.contributor.authorSoucy, P
dc.contributor.authorSouthey, M
dc.contributor.authorSteinemann, D
dc.contributor.authorStoppa-Lyonnet, D
dc.contributor.authorSukiennicki, G
dc.contributor.authorSutter, C
dc.contributor.authorSzabo, CI
dc.contributor.authorTea, M-K
dc.contributor.authorTeixeira, MR
dc.contributor.authorTeo, S-H
dc.contributor.authorTerry, MB
dc.contributor.authorThomassen, M
dc.contributor.authorTibiletti, MG
dc.contributor.authorTihomirova, L
dc.contributor.authorTognazzo, S
dc.contributor.authorvan Rensburg, EJ
dc.contributor.authorVaresco, L
dc.contributor.authorVaron-Mateeva, R
dc.contributor.authorVratimos, A
dc.contributor.authorWeitzel, JN
dc.contributor.authorMcGuffog, L
dc.contributor.authorKirk, J
dc.contributor.authorToland, AE
dc.contributor.authorHamann, U
dc.contributor.authorLindor, N
dc.contributor.authorRamus, SJ
dc.contributor.authorGreene, MH
dc.contributor.authorCouch, FJ
dc.contributor.authorOffit, K
dc.contributor.authorPharoah, PDP
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorAntoniou, AC
dc.date.accessioned2016-09-21T10:27:11Z
dc.date.issued2016-01
dc.identifier.citationPloS one, 2016, 11 (7), pp. e0158801 - ?
dc.identifier.issn1932-6203
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/119
dc.identifier.eissn1932-6203
dc.identifier.doi10.1371/journal.pone.0158801
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.
dc.formatElectronic-eCollection
dc.format.extente0158801 - ?
dc.languageeng
dc.language.isoeng
dc.subjectKConFab Investigators
dc.subjectChromosomes, Human, Pair 9
dc.subjectHumans
dc.subjectOvarian Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectChromosome Mapping
dc.subjectPolymorphism, Single Nucleotide
dc.subjectGenes, BRCA1
dc.subjectGenes, BRCA2
dc.subjectFemale
dc.subjectGenetic Carrier Screening
dc.titleFine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
dc.typeJournal Article
dcterms.dateAccepted2016-06-22
rioxxterms.versionofrecord10.1371/journal.pone.0158801
rioxxterms.licenseref.startdate2016-01
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfPloS one
pubs.issue7
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/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.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-statusPublished
pubs.volume11
pubs.embargo.termsNo embargo
icr.researchteamOncogeneticsen_US
dc.contributor.icrauthorEeles, Rosalinden


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