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dc.contributor.authorCouch, FJ
dc.contributor.authorWang, X
dc.contributor.authorMcGuffog, L
dc.contributor.authorLee, A
dc.contributor.authorOlswold, C
dc.contributor.authorKuchenbaecker, KB
dc.contributor.authorSoucy, P
dc.contributor.authorFredericksen, Z
dc.contributor.authorBarrowdale, D
dc.contributor.authorDennis, J
dc.contributor.authorGaudet, MM
dc.contributor.authorDicks, E
dc.contributor.authorKosel, M
dc.contributor.authorHealey, S
dc.contributor.authorSinilnikova, OM
dc.contributor.authorLee, A
dc.contributor.authorBacot, F
dc.contributor.authorVincent, D
dc.contributor.authorHogervorst, FBL
dc.contributor.authorPeock, S
dc.contributor.authorStoppa-Lyonnet, D
dc.contributor.authorJakubowska, A
dc.contributor.authorRadice, P
dc.contributor.authorSchmutzler, RK
dc.contributor.authorDomchek, SM
dc.contributor.authorPiedmonte, M
dc.contributor.authorSinger, CF
dc.contributor.authorFriedman, E
dc.contributor.authorThomassen, M
dc.contributor.authorHansen, TVO
dc.contributor.authorNeuhausen, SL
dc.contributor.authorSzabo, CI
dc.contributor.authorBlanco, I
dc.contributor.authorGreene, MH
dc.contributor.authorKarlan, BY
dc.contributor.authorGarber, J
dc.contributor.authorPhelan, CM
dc.contributor.authorWeitzel, JN
dc.contributor.authorMontagna, M
dc.contributor.authorOlah, E
dc.contributor.authorAndrulis, IL
dc.contributor.authorGodwin, AK
dc.contributor.authorYannoukakos, D
dc.contributor.authorGoldgar, DE
dc.contributor.authorCaldes, T
dc.contributor.authorNevanlinna, H
dc.contributor.authorOsorio, A
dc.contributor.authorTerry, MB
dc.contributor.authorDaly, MB
dc.contributor.authorvan Rensburg, EJ
dc.contributor.authorHamann, U
dc.contributor.authorRamus, SJ
dc.contributor.authorToland, AE
dc.contributor.authorCaligo, MA
dc.contributor.authorOlopade, OI
dc.contributor.authorTung, N
dc.contributor.authorClaes, K
dc.contributor.authorBeattie, MS
dc.contributor.authorSouthey, MC
dc.contributor.authorImyanitov, EN
dc.contributor.authorTischkowitz, M
dc.contributor.authorJanavicius, R
dc.contributor.authorJohn, EM
dc.contributor.authorKwong, A
dc.contributor.authorDiez, O
dc.contributor.authorBalmana, J
dc.contributor.authorBarkardottir, RB
dc.contributor.authorArun, BK
dc.contributor.authorRennert, G
dc.contributor.authorTeo, S-H
dc.contributor.authorGanz, PA
dc.contributor.authorCampbell, I
dc.contributor.authorvan der Hout, AH
dc.contributor.authorvan Deurzen, CHM
dc.contributor.authorSeynaeve, C
dc.contributor.authorGarcia, EBG
dc.contributor.authorvan Leeuwen, FE
dc.contributor.authorMeijers-Heijboer, HEJ
dc.contributor.authorGille, JJP
dc.contributor.authorAusems, MGEM
dc.contributor.authorBlok, MJ
dc.contributor.authorLigtenberg, MJL
dc.contributor.authorRookus, MA
dc.contributor.authorDevilee, P
dc.contributor.authorVerhoef, S
dc.contributor.authorvan Os, TAM
dc.contributor.authorWijnen, JT
dc.contributor.authorFrost, D
dc.contributor.authorEllis, S
dc.contributor.authorFineberg, E
dc.contributor.authorPlatte, R
dc.contributor.authorEvans, DG
dc.contributor.authorIzatt, L
dc.contributor.authorEeles, RA
dc.contributor.authorAdlard, J
dc.contributor.authorEccles, DM
dc.contributor.authorCook, J
dc.contributor.authorBrewer, C
dc.contributor.authorDouglas, F
dc.contributor.authorHodgson, S
dc.contributor.authorMorrison, PJ
dc.contributor.authorSide, LE
dc.contributor.authorDonaldson, A
dc.contributor.authorHoughton, C
dc.contributor.authorRogers, MT
dc.contributor.authorDorkins, H
dc.contributor.authorEason, J
dc.contributor.authorGregory, H
dc.contributor.authorMcCann, E
dc.contributor.authorMurray, A
dc.contributor.authorCalender, A
dc.contributor.authorHardouin, A
dc.contributor.authorBerthet, P
dc.contributor.authorDelnatte, C
dc.contributor.authorNogues, C
dc.contributor.authorLasset, C
dc.contributor.authorHoudayer, C
dc.contributor.authorLeroux, D
dc.contributor.authorRouleau, E
dc.contributor.authorPrieur, F
dc.contributor.authorDamiola, F
dc.contributor.authorSobol, H
dc.contributor.authorCoupier, I
dc.contributor.authorVenat-Bouvet, L
dc.contributor.authorCastera, L
dc.contributor.authorGauthier-Villars, M
dc.contributor.authorLeone, M
dc.contributor.authorPujol, P
dc.contributor.authorMazoyer, S
dc.contributor.authorBignon, Y-J
dc.contributor.authorZlowocka-Perlowska, E
dc.contributor.authorGronwald, J
dc.contributor.authorLubinski, J
dc.contributor.authorDurda, K
dc.contributor.authorJaworska, K
dc.contributor.authorHuzarski, T
dc.contributor.authorSpurdle, AB
dc.contributor.authorViel, A
dc.contributor.authorPeissel, B
dc.contributor.authorBonanni, B
dc.contributor.authorMelloni, G
dc.contributor.authorOttini, L
dc.contributor.authorPapi, L
dc.contributor.authorVaresco, L
dc.contributor.authorTibiletti, MG
dc.contributor.authorPeterlongo, P
dc.contributor.authorVolorio, S
dc.contributor.authorManoukian, S
dc.contributor.authorPensotti, V
dc.contributor.authorArnold, N
dc.contributor.authorEngel, C
dc.contributor.authorDeissler, H
dc.contributor.authorGadzicki, D
dc.contributor.authorGehrig, A
dc.contributor.authorKast, K
dc.contributor.authorRhiem, K
dc.contributor.authorMeindl, A
dc.contributor.authorNiederacher, D
dc.contributor.authorDitsch, N
dc.contributor.authorPlendl, H
dc.contributor.authorPreisler-Adams, S
dc.contributor.authorEngert, S
dc.contributor.authorSutter, C
dc.contributor.authorVaron-Mateeva, R
dc.contributor.authorWappenschmidt, B
dc.contributor.authorWeber, BHF
dc.contributor.authorArver, B
dc.contributor.authorStenmark-Askmalm, M
dc.contributor.authorLoman, N
dc.contributor.authorRosenquist, R
dc.contributor.authorEinbeigi, Z
dc.contributor.authorNathanson, KL
dc.contributor.authorRebbeck, TR
dc.contributor.authorBlank, SV
dc.contributor.authorCohn, DE
dc.contributor.authorRodriguez, GC
dc.contributor.authorSmall, L
dc.contributor.authorFriedlander, M
dc.contributor.authorBae-Jump, VL
dc.contributor.authorFink-Retter, A
dc.contributor.authorRappaport, C
dc.contributor.authorGschwantler-Kaulich, D
dc.contributor.authorPfeiler, G
dc.contributor.authorTea, M-K
dc.contributor.authorLindor, NM
dc.contributor.authorKaufman, B
dc.contributor.authorPaluch, SS
dc.contributor.authorLaitman, Y
dc.contributor.authorSkytte, A-B
dc.contributor.authorGerdes, A-M
dc.contributor.authorPedersen, IS
dc.contributor.authorMoeller, ST
dc.contributor.authorKruse, TA
dc.contributor.authorJensen, UB
dc.contributor.authorVijai, J
dc.contributor.authorSarrel, K
dc.contributor.authorRobson, M
dc.contributor.authorKauff, N
dc.contributor.authorMulligan, AM
dc.contributor.authorGlendon, G
dc.contributor.authorOzcelik, H
dc.contributor.authorEjlertsen, B
dc.contributor.authorNielsen, FC
dc.contributor.authorJonson, L
dc.contributor.authorAndersen, MK
dc.contributor.authorDing, YC
dc.contributor.authorSteele, L
dc.contributor.authorForetova, L
dc.contributor.authorTeule, A
dc.contributor.authorLazaro, C
dc.contributor.authorBrunet, J
dc.contributor.authorAngel Pujana, M
dc.contributor.authorMai, PL
dc.contributor.authorLoud, JT
dc.contributor.authorWalsh, C
dc.contributor.authorLester, J
dc.contributor.authorOrsulic, S
dc.contributor.authorNarod, SA
dc.contributor.authorHerzog, J
dc.contributor.authorSand, SR
dc.contributor.authorTognazzo, S
dc.contributor.authorAgata, S
dc.contributor.authorVaszko, T
dc.contributor.authorWeaver, J
dc.contributor.authorStavropoulou, AV
dc.contributor.authorBuys, SS
dc.contributor.authorRomero, A
dc.contributor.authorde la Hoya, M
dc.contributor.authorAittomaki, K
dc.contributor.authorMuranen, TA
dc.contributor.authorDuran, M
dc.contributor.authorChung, WK
dc.contributor.authorLasa, A
dc.contributor.authorDorfling, CM
dc.contributor.authorMiron, A
dc.contributor.authorBenitez, J
dc.contributor.authorSenter, L
dc.contributor.authorHuo, D
dc.contributor.authorChan, SB
dc.contributor.authorSokolenko, AP
dc.contributor.authorChiquette, J
dc.contributor.authorTihomirova, L
dc.contributor.authorFriebel, TM
dc.contributor.authorAgnarsson, BA
dc.contributor.authorLu, KH
dc.contributor.authorLejbkowicz, F
dc.contributor.authorJames, PA
dc.contributor.authorHall, P
dc.contributor.authorDunning, AM
dc.contributor.authorTessier, D
dc.contributor.authorCunningham, J
dc.contributor.authorSlager, SL
dc.contributor.authorWang, C
dc.contributor.authorHart, S
dc.contributor.authorStevens, K
dc.contributor.authorSimard, J
dc.contributor.authorPastinen, T
dc.contributor.authorPankratz, VS
dc.contributor.authorOffit, K
dc.contributor.authorEaston, DF
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorAntoniou, AC
dc.date.available2014-05-22T08:36:00Z
dc.date.available2012-11-14
dc.date.available2012-11-14
dc.date.available2012-11-14
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dc.date.available2012-11-14
dc.date.available2012-11-14
dc.date.available2012-11-14
dc.date.available2012-11-14
dc.date.available2012-11-14
dc.date.available2012-11-14
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dc.date.available2012-11-14
dc.date.issued2013-03-01
dc.identifierpii: PGENETICS-D-12-02260
dc.identifier.citationCouch, F. J., Wang, X., McGuffog, L., Lee, A., Olswold, C., Kuchenbaecker, K. B., Soucy, P., Fredericksen, Z., Barrowdale, D., Dennis, J., Gaudet, M. M., Dicks, E., Kosel, M., Healey, S., Sinilnikova, O. M., Lee, A., Bacot, F., Vincent, D., Hogervorst, F. B. L. ,... Antoniou, A. C. (2013). Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk. PLOS GENETICS, 9 (3), https://doi.org/10.1371/journal.pgen.1003212.
dc.identifier.issn1553-7404
dc.identifier.urihttp://hdl.handle.net/11343/33289
dc.descriptionC1 - Journal Articles Refereed
dc.description.abstractBRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 × 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 × 10(-8), HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10(-4)). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers.
dc.languageEnglish
dc.publisherPUBLIC LIBRARY SCIENCE
dc.subjectGene Expression (incl. Microarray and other genome-wide approaches); Cancer and Related Disorders
dc.titleGenome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
dc.typeJournal Article
dc.identifier.doi10.1371/journal.pgen.1003212
melbourne.peerreviewPeer Reviewed
melbourne.affiliationThe University of Melbourne
melbourne.affiliation.departmentPathology
melbourne.source.titlePLOS GENETICS
melbourne.source.volume9
melbourne.source.issue3
dc.rights.licenseCC BY
melbourne.publicationid197323
melbourne.elementsid535732
melbourne.openaccess.pmchttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609646
melbourne.contributor.authorSouthey, Melissa
melbourne.contributor.authorJames, Paul
melbourne.contributor.authorCampbell, Ian
dc.identifier.eissn1553-7404
melbourne.accessrightsAccess this item via the Open Access location


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