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Article: Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

TitleCommon variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
Authors
Couch, FJGaudet, MMAntoniou, ACRamus, SJKuchenbaecker, KBSoucy, PBeesley, JChen, XWang, XKirchhoff, TMcGuffog, LBarrowdale, DLee, AHealey, SSinilnikova, OMAndrulis, ILOzcelik, HMulligan, AMThomassen, MGerdes, AMJensen, UBSkytte, ABKruse, TACaligo, MAVon Wachenfeldt, ABarbanyBustinza, GLoman, NSoller, MEhrencrona, HKarlsson, PNathanson, KRebbeck, TRDomchek, SMJakubowska, ALubinski, JJaworska, KDurda, KZołwocka, EHuzarski, TByrski, TGronwald, JCybulski, CGoŕski, BOsorio, ADurań, MTejada, MIBenitez, JHamann, UHogervorst, FBLVan Os, TAVan Leeuwen, FEMeijersHeijboer, HEJWijnen, JBlok, MJKets, MHooning, MJOldenburg, RAAusems, MGEMPeock, SFrost, DEllis, SDPlatte, RFineberg, EEvans, DGJacobs, CEeles, RAAdlard, JDavidson, REccles, DMCole, TCook, JPaterson, JBrewer, CDouglas, FHodgson, SVMorrison, PJWalker, LPorteous, MEKennedy, MJSide, LEBove, BGodwin, AKStoppaLyonnet, DFassyColcombet, MCastera, LCornelis, FMazoyer, SLeóne, MBoutryKryza, NBressacde Paillerets, BCaron, OPujol, PCoupier, IDelnatte, CAkloul, LLynch, HTSnyder, CLBuys, SSDaly, MBTerry, MChung, WKJohn, EMMiron, ASouthey, MCHopper, JLGoldgar, DESinger, CFRappaport, CTea, MKMFinkRetter, AHansen, TVONielsen, FCArason, AVijai, JShah, SSarrel, KRobson, MEPiedmonte, MPhillips, KBasil, JRubinstein, WSBoggess, JWakeley, KEwartToland, AMontagna, MAgata, SImyanitov, ENIsaacs, CJanavicius, RLazaro, CBlanco, IFeliubadalo, LBrunet, JGayther, SAPharoah, PPDOdunsi, KOKarlan, BYWalsh, CSOlah, ETeo, SHGanz, PABeattie, MSVan Rensburg, EJDorfling, CMDiez, OKwong, ASchmutzler, RKWappenschmidt, BEngel, CMeindl, ADitsch, NArnold, NHeidemann, SNiederacher, DPreislerAdams, SGadzicki, DVaronMateeva, RDeissler, HGehrig, ASutter, CKast, KFiebig, BHeinritz, WCaldes, TDe La Hoya, MMuranen, TANevanlinna, HTischkowitz, MDSpurdle, ABNeuhausen, SLDing, YCLindor, NMFredericksen, ZPankratz, VSPeterlongo, PManoukian, SPeissel, BZaffaroni, DBarile, MBernard, LViel, AGiannini, GVaresco, LRadice, PGreene, MHMai, PLEaston, DFChenevixTrench, GOffit, KSimard, J
Issue Date2012
PublisherAmerican Association for Cancer Research.
Citation
Cancer Epidemiology Biomarkers And Prevention, 2012, v. 21 n. 4, p. 645-657 How to Cite?
AbstractBackground: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10 -4] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers.Wealso found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10 -4) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10 -3). Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers. © 2012 AACR.
Persistent Identifierhttp://hdl.handle.net/10722/182270
ISSN
2015 Impact Factor: 3.622
2015 SCImago Journal Rankings: 2.579
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorCouch, FJen_HK
dc.contributor.authorGaudet, MMen_HK
dc.contributor.authorAntoniou, ACen_HK
dc.contributor.authorRamus, SJen_HK
dc.contributor.authorKuchenbaecker, KBen_HK
dc.contributor.authorSoucy, Pen_HK
dc.contributor.authorBeesley, Jen_HK
dc.contributor.authorChen, Xen_HK
dc.contributor.authorWang, Xen_HK
dc.contributor.authorKirchhoff, Ten_HK
dc.contributor.authorMcGuffog, Len_HK
dc.contributor.authorBarrowdale, Den_HK
dc.contributor.authorLee, Aen_HK
dc.contributor.authorHealey, Sen_HK
dc.contributor.authorSinilnikova, OMen_HK
dc.contributor.authorAndrulis, ILen_HK
dc.contributor.authorOzcelik, Hen_HK
dc.contributor.authorMulligan, AMen_HK
dc.contributor.authorThomassen, Men_HK
dc.contributor.authorGerdes, AMen_HK
dc.contributor.authorJensen, UBen_HK
dc.contributor.authorSkytte, ABen_HK
dc.contributor.authorKruse, TAen_HK
dc.contributor.authorCaligo, MAen_HK
dc.contributor.authorVon Wachenfeldt, Aen_HK
dc.contributor.authorBarbanyBustinza, Gen_HK
dc.contributor.authorLoman, Nen_HK
dc.contributor.authorSoller, Men_HK
dc.contributor.authorEhrencrona, Hen_HK
dc.contributor.authorKarlsson, Pen_HK
dc.contributor.authorNathanson, Ken_HK
dc.contributor.authorRebbeck, TRen_HK
dc.contributor.authorDomchek, SMen_HK
dc.contributor.authorJakubowska, Aen_HK
dc.contributor.authorLubinski, Jen_HK
dc.contributor.authorJaworska, Ken_HK
dc.contributor.authorDurda, Ken_HK
dc.contributor.authorZołwocka, Een_HK
dc.contributor.authorHuzarski, Ten_HK
dc.contributor.authorByrski, Ten_HK
dc.contributor.authorGronwald, Jen_HK
dc.contributor.authorCybulski, Cen_HK
dc.contributor.authorGoŕski, Ben_HK
dc.contributor.authorOsorio, Aen_HK
dc.contributor.authorDurań, Men_HK
dc.contributor.authorTejada, MIen_HK
dc.contributor.authorBenitez, Jen_HK
dc.contributor.authorHamann, Uen_HK
dc.contributor.authorHogervorst, FBLen_HK
dc.contributor.authorVan Os, TAen_HK
dc.contributor.authorVan Leeuwen, FEen_HK
dc.contributor.authorMeijersHeijboer, HEJen_HK
dc.contributor.authorWijnen, Jen_HK
dc.contributor.authorBlok, MJen_HK
dc.contributor.authorKets, Men_HK
dc.contributor.authorHooning, MJen_HK
dc.contributor.authorOldenburg, RAen_HK
dc.contributor.authorAusems, MGEMen_HK
dc.contributor.authorPeock, Sen_HK
dc.contributor.authorFrost, Den_HK
dc.contributor.authorEllis, SDen_HK
dc.contributor.authorPlatte, Ren_HK
dc.contributor.authorFineberg, Een_HK
dc.contributor.authorEvans, DGen_HK
dc.contributor.authorJacobs, Cen_HK
dc.contributor.authorEeles, RAen_HK
dc.contributor.authorAdlard, Jen_HK
dc.contributor.authorDavidson, Ren_HK
dc.contributor.authorEccles, DMen_HK
dc.contributor.authorCole, Ten_HK
dc.contributor.authorCook, Jen_HK
dc.contributor.authorPaterson, Jen_HK
dc.contributor.authorBrewer, Cen_HK
dc.contributor.authorDouglas, Fen_HK
dc.contributor.authorHodgson, SVen_HK
dc.contributor.authorMorrison, PJen_HK
dc.contributor.authorWalker, Len_HK
dc.contributor.authorPorteous, MEen_HK
dc.contributor.authorKennedy, MJen_HK
dc.contributor.authorSide, LEen_HK
dc.contributor.authorBove, Ben_HK
dc.contributor.authorGodwin, AKen_HK
dc.contributor.authorStoppaLyonnet, Den_HK
dc.contributor.authorFassyColcombet, Men_HK
dc.contributor.authorCastera, Len_HK
dc.contributor.authorCornelis, Fen_HK
dc.contributor.authorMazoyer, Sen_HK
dc.contributor.authorLeóne, Men_HK
dc.contributor.authorBoutryKryza, Nen_HK
dc.contributor.authorBressacde Paillerets, Ben_HK
dc.contributor.authorCaron, Oen_HK
dc.contributor.authorPujol, Pen_HK
dc.contributor.authorCoupier, Ien_HK
dc.contributor.authorDelnatte, Cen_HK
dc.contributor.authorAkloul, Len_HK
dc.contributor.authorLynch, HTen_HK
dc.contributor.authorSnyder, CLen_HK
dc.contributor.authorBuys, SSen_HK
dc.contributor.authorDaly, MBen_HK
dc.contributor.authorTerry, Men_HK
dc.contributor.authorChung, WKen_HK
dc.contributor.authorJohn, EMen_HK
dc.contributor.authorMiron, Aen_HK
dc.contributor.authorSouthey, MCen_HK
dc.contributor.authorHopper, JLen_HK
dc.contributor.authorGoldgar, DEen_HK
dc.contributor.authorSinger, CFen_HK
dc.contributor.authorRappaport, Cen_HK
dc.contributor.authorTea, MKMen_HK
dc.contributor.authorFinkRetter, Aen_HK
dc.contributor.authorHansen, TVOen_HK
dc.contributor.authorNielsen, FCen_HK
dc.contributor.authorArason, Aen_HK
dc.contributor.authorVijai, Jen_HK
dc.contributor.authorShah, Sen_HK
dc.contributor.authorSarrel, Ken_HK
dc.contributor.authorRobson, MEen_HK
dc.contributor.authorPiedmonte, Men_HK
dc.contributor.authorPhillips, Ken_HK
dc.contributor.authorBasil, Jen_HK
dc.contributor.authorRubinstein, WSen_HK
dc.contributor.authorBoggess, Jen_HK
dc.contributor.authorWakeley, Ken_HK
dc.contributor.authorEwartToland, Aen_HK
dc.contributor.authorMontagna, Men_HK
dc.contributor.authorAgata, Sen_HK
dc.contributor.authorImyanitov, ENen_HK
dc.contributor.authorIsaacs, Cen_HK
dc.contributor.authorJanavicius, Ren_HK
dc.contributor.authorLazaro, Cen_HK
dc.contributor.authorBlanco, Ien_HK
dc.contributor.authorFeliubadalo, Len_HK
dc.contributor.authorBrunet, Jen_HK
dc.contributor.authorGayther, SAen_HK
dc.contributor.authorPharoah, PPDen_HK
dc.contributor.authorOdunsi, KOen_HK
dc.contributor.authorKarlan, BYen_HK
dc.contributor.authorWalsh, CSen_HK
dc.contributor.authorOlah, Een_HK
dc.contributor.authorTeo, SHen_HK
dc.contributor.authorGanz, PAen_HK
dc.contributor.authorBeattie, MSen_HK
dc.contributor.authorVan Rensburg, EJen_HK
dc.contributor.authorDorfling, CMen_HK
dc.contributor.authorDiez, Oen_HK
dc.contributor.authorKwong, Aen_HK
dc.contributor.authorSchmutzler, RKen_HK
dc.contributor.authorWappenschmidt, Ben_HK
dc.contributor.authorEngel, Cen_HK
dc.contributor.authorMeindl, Aen_HK
dc.contributor.authorDitsch, Nen_HK
dc.contributor.authorArnold, Nen_HK
dc.contributor.authorHeidemann, Sen_HK
dc.contributor.authorNiederacher, Den_HK
dc.contributor.authorPreislerAdams, Sen_HK
dc.contributor.authorGadzicki, Den_HK
dc.contributor.authorVaronMateeva, Ren_HK
dc.contributor.authorDeissler, Hen_HK
dc.contributor.authorGehrig, Aen_HK
dc.contributor.authorSutter, Cen_HK
dc.contributor.authorKast, Ken_HK
dc.contributor.authorFiebig, Ben_HK
dc.contributor.authorHeinritz, Wen_HK
dc.contributor.authorCaldes, Ten_HK
dc.contributor.authorDe La Hoya, Men_HK
dc.contributor.authorMuranen, TAen_HK
dc.contributor.authorNevanlinna, Hen_HK
dc.contributor.authorTischkowitz, MDen_HK
dc.contributor.authorSpurdle, ABen_HK
dc.contributor.authorNeuhausen, SLen_HK
dc.contributor.authorDing, YCen_HK
dc.contributor.authorLindor, NMen_HK
dc.contributor.authorFredericksen, Zen_HK
dc.contributor.authorPankratz, VSen_HK
dc.contributor.authorPeterlongo, Pen_HK
dc.contributor.authorManoukian, Sen_HK
dc.contributor.authorPeissel, Ben_HK
dc.contributor.authorZaffaroni, Den_HK
dc.contributor.authorBarile, Men_HK
dc.contributor.authorBernard, Len_HK
dc.contributor.authorViel, Aen_HK
dc.contributor.authorGiannini, Gen_HK
dc.contributor.authorVaresco, Len_HK
dc.contributor.authorRadice, Pen_HK
dc.contributor.authorGreene, MHen_HK
dc.contributor.authorMai, PLen_HK
dc.contributor.authorEaston, DFen_HK
dc.contributor.authorChenevixTrench, Gen_HK
dc.contributor.authorOffit, Ken_HK
dc.contributor.authorSimard, Jen_HK
dc.date.accessioned2013-04-19T08:33:27Z-
dc.date.available2013-04-19T08:33:27Z-
dc.date.issued2012en_HK
dc.identifier.citationCancer Epidemiology Biomarkers And Prevention, 2012, v. 21 n. 4, p. 645-657en_HK
dc.identifier.issn1055-9965en_HK
dc.identifier.urihttp://hdl.handle.net/10722/182270-
dc.description.abstractBackground: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10 -4] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers.Wealso found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10 -4) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10 -3). Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers. © 2012 AACR.en_HK
dc.languageeng-
dc.publisherAmerican Association for Cancer Research.-
dc.relation.ispartofCancer Epidemiology Biomarkers and Preventionen_HK
dc.subject.meshBRCA1 Protein - genetics-
dc.subject.meshBRCA2 Protein - genetics-
dc.subject.meshBreast Neoplasms - epidemiology - genetics - metabolism-
dc.subject.meshChromosomes, Human, Pair 19 - genetics-
dc.subject.meshOvarian Neoplasms - epidemiology - genetics - metabolism-
dc.titleCommon variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriersen_HK
dc.typeArticleen_HK
dc.identifier.emailMuranen, TA: avakwong@hkucc.hku.hken_HK
dc.identifier.authorityMuranen, TA=rp01734en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1158/1055-9965.EPI-11-0888en_HK
dc.identifier.pmid22351618-
dc.identifier.pmcidPMC3319317-
dc.identifier.scopuseid_2-s2.0-84859377440en_HK
dc.identifier.hkuros198692-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84859377440&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume21en_HK
dc.identifier.issue4en_HK
dc.identifier.spage645en_HK
dc.identifier.epage657en_HK
dc.identifier.isiWOS:000302220600010-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridCouch, FJ=7005841005en_HK
dc.identifier.scopusauthoridGaudet, MM=7003783796en_HK
dc.identifier.scopusauthoridAntoniou, AC=7101627254en_HK
dc.identifier.scopusauthoridRamus, SJ=7004611305en_HK
dc.identifier.scopusauthoridKuchenbaecker, KB=35976214200en_HK
dc.identifier.scopusauthoridSoucy, P=7004256938en_HK
dc.identifier.scopusauthoridBeesley, J=16021347300en_HK
dc.identifier.scopusauthoridChen, X=35486967600en_HK
dc.identifier.scopusauthoridWang, X=7501868829en_HK
dc.identifier.scopusauthoridKirchhoff, T=7004665034en_HK
dc.identifier.scopusauthoridMcGuffog, L=6507594428en_HK
dc.identifier.scopusauthoridChung, WK=6602639595en_HK
dc.identifier.scopusauthoridJohn, EM=7004511914en_HK
dc.identifier.scopusauthoridMiron, A=7005994224en_HK
dc.identifier.scopusauthoridSouthey, MC=15051538000en_HK
dc.identifier.scopusauthoridHopper, JL=35336170900en_HK
dc.identifier.scopusauthoridGoldgar, DE=26535824700en_HK
dc.identifier.scopusauthoridSinger, CF=7003813245en_HK
dc.identifier.scopusauthoridRappaport, C=7101678630en_HK
dc.identifier.scopusauthoridTea, MKM=36459762500en_HK
dc.identifier.scopusauthoridFinkRetter, A=7003938396en_HK
dc.identifier.scopusauthoridBarrowdale, D=36472978900en_HK
dc.identifier.scopusauthoridHansen, TVO=54418570900en_HK
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dc.identifier.scopusauthoridArason, A=6603308697en_HK
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dc.identifier.scopusauthoridShah, S=55175560800en_HK
dc.identifier.scopusauthoridSarrel, K=35377379200en_HK
dc.identifier.scopusauthoridRobson, ME=7202613534en_HK
dc.identifier.scopusauthoridPiedmonte, M=7004195562en_HK
dc.identifier.scopusauthoridPhillips, K=35375546500en_HK
dc.identifier.scopusauthoridBasil, J=7103127586en_HK
dc.identifier.scopusauthoridLee, A=55260956800en_HK
dc.identifier.scopusauthoridRubinstein, WS=7401982118en_HK
dc.identifier.scopusauthoridBoggess, J=7102925001en_HK
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dc.identifier.scopusauthoridEwartToland, A=7003842049en_HK
dc.identifier.scopusauthoridMontagna, M=7201924128en_HK
dc.identifier.scopusauthoridAgata, S=7006338731en_HK
dc.identifier.scopusauthoridImyanitov, EN=7102316608en_HK
dc.identifier.scopusauthoridIsaacs, C=51764379200en_HK
dc.identifier.scopusauthoridJanavicius, R=9844674900en_HK
dc.identifier.scopusauthoridLazaro, C=24340536700en_HK
dc.identifier.scopusauthoridHealey, S=7004226174en_HK
dc.identifier.scopusauthoridBlanco, I=7401667958en_HK
dc.identifier.scopusauthoridFeliubadalo, L=7201827789en_HK
dc.identifier.scopusauthoridBrunet, J=6701749182en_HK
dc.identifier.scopusauthoridGayther, SA=6508311894en_HK
dc.identifier.scopusauthoridPharoah, PPD=7403887730en_HK
dc.identifier.scopusauthoridOdunsi, KO=55175560900en_HK
dc.identifier.scopusauthoridKarlan, BY=7201605298en_HK
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dc.identifier.scopusauthoridWappenschmidt, B=7005939407en_HK
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dc.identifier.scopusauthoridGadzicki, D=7004111676en_HK
dc.identifier.scopusauthoridVaronMateeva, R=7006780020en_HK
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dc.identifier.scopusauthoridTischkowitz, MD=6507080603en_HK
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dc.identifier.scopusauthoridViel, A=8075262700en_HK
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dc.identifier.scopusauthoridCaligo, MA=7004611305en_HK
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dc.identifier.scopusauthoridBarbanyBustinza, G=7004256938en_HK
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dc.identifier.scopusauthoridDaly, MB=7402308393en_HK
dc.identifier.scopusauthoridTerry, M=6603383119en_HK

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