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Article: Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
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TitleCommon variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
 
AuthorsAntoniou, AC
Kuchenbaecker, KB
Soucy, P
Beesley, J
Chen, X
McGuffog, L
Lee, A
Barrowdale, D
Healey, S
Sinilnikova, OM
Caligo, MA
Chenevix-Trench, G
Teo, S-H
Ganz, PA
Ganz, PA
Loud, JT
Beattie, MS
Dorfling, CM
Peissel, B
van Resburg, EJ
Meindl, A
Offit, K
Neuhausen, SL
Simard, J
Caldes, T
Varon-Mateeva, R
EMBRACE,
Zaffaroni, D
Arver, B
Ding, YC
de la Hoya, M
Lalloo, F
Ligtenberg, MJ
Ozcelik, H
Wang, X
Bonanni, B
Fredericksen, Z
Douglas, F
Peock, S
Easton, DF
Bernard, L
Mulligan, AM
Dolcetti, R
Kriege, M
Bove, B
Jacobs, C
Rosenquist, R
Glendon, G
CIMBA,
Thomassen, M
Frost, D
Sobol, H
Brewer, C
Papi, L
Collee, JM
SWE-BRCA,
Karission, P
HEBON,
Eeles, R
John, EM
Stoppa-Lyonnet, D
Gerdes, A-M
Ellis, SD
Nathanson, K
Jensen, UB
Singer, CF
Domehek, S
Hodgson, S
Joseph, V
Frenay, M
EMBRACE,
Adlard, J
GEMO Collaborators Study,
kConFab Investigators,
Piedmonte, M
Rebbeck, T
Ausems, MGEM
Houdayer, C
Jabubowska, A
Southey, M
Lubinski, J
Morrison, PJ
Jaworska, K
Durda, K
Davidson, R
Zlowowcka-Perlowska, E
Platte, R
Oosterwijk, JC
Prieur, F
Osorio, A
Dutra-Clarke, A
Duran, M
Buecher, B
Andres, R
Benitez, J
Walker, L
Hamann, U
Cole, T
Mortemousque, I
Fineberg, E
Goldgar, D
Hogervorst, FB
van O, TA
Verhoef, S
Ferrer, SF
Meijers-Heijboer, HEJ
Wijnen, J
de Pauw, A
Gomez Garcia, EB
HEBON,
Rogers, MT
Fint-Retter, A
Cook, J
Gareth Evans, D
Harbst, K
Mazoyer, S
Kirk, J
Donaldson, A
Paterson, J
Ditsch, N
GEMO Study Collaborators,
Dorkins, H
Calender, A
Godwin, AK
Deissler, H
Diez, O
Tea, M-K
Leone, M
Buys, S
Bressac-de Paillerets, B
Nevanlinna, H
Arnold, N
Cohn, D
Daly, M
Kaulich, DG
Miron, A
Kwong, A
Pankratz, VS
Gehrig, A
Caron, O
Hansen, TVO
Hurtea, J
Nielsen, FC
Heidemann, S
Ottini, L
Muranen, TA
Terry, MB
Schmutzler, RK
Byron, J
Hopper, JL
Fiorica, J
Sutter, C
Skytte, A-B
Lindor, NM
Barkardottir, RB
Niederacher, D
Gaudet, M
Kirchhoff, T
Couch, FJ
Tolad, AE
Lesperance, B
SWE-BRCA,
Radice, P
Montagna, M
Kast, K
Oliani, C
Imyanitov, E
Lindblom, A
Isaacs, C
Wappenschmidt, B
Peterlongo, P
Tihomirova, L
Kruse, TA
Blanco, I
Spurdle, AB
Lazaro, C
Teule, A
Fiebig, B
Del Valle, J
Preister-Adams, S
Engel, C
Greene, MH
Gayther, SA
Loman, N
Odunsi, K
Manoukian, S
Gross, J
Karlan, BY
kConFab Investigators,
Olah, E
Schafer, D
Andrulis, IL
Gadzicki, D
 
Issue Date2012
 
PublisherBioMed Central Ltd. The Journal's web site is located at http://breast-cancer-research.com/
 
CitationBreast Cancer Research, 2012, v. 14 n. 1, article no. R33 [How to Cite?]
DOI: http://dx.doi.org/10.1186/bcr3121
 
AbstractINTRODUCTION: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). METHODS: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. RESULTS: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 x 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 x 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 x 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). CONCLUSIONS: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.
 
ISSN1465-542X
2013 Impact Factor: 5.881
2013 SCImago Journal Rankings: 3.209
 
DOIhttp://dx.doi.org/10.1186/bcr3121
 
PubMed Central IDPMC3496151
 
DC FieldValue
dc.contributor.authorAntoniou, AC
 
dc.contributor.authorKuchenbaecker, KB
 
dc.contributor.authorSoucy, P
 
dc.contributor.authorBeesley, J
 
dc.contributor.authorChen, X
 
dc.contributor.authorMcGuffog, L
 
dc.contributor.authorLee, A
 
dc.contributor.authorBarrowdale, D
 
dc.contributor.authorHealey, S
 
dc.contributor.authorSinilnikova, OM
 
dc.contributor.authorCaligo, MA
 
dc.contributor.authorChenevix-Trench, G
 
dc.contributor.authorTeo, S-H
 
dc.contributor.authorGanz, PA
 
dc.contributor.authorGanz, PA
 
dc.contributor.authorLoud, JT
 
dc.contributor.authorBeattie, MS
 
dc.contributor.authorDorfling, CM
 
dc.contributor.authorPeissel, B
 
dc.contributor.authorvan Resburg, EJ
 
dc.contributor.authorMeindl, A
 
dc.contributor.authorOffit, K
 
dc.contributor.authorNeuhausen, SL
 
dc.contributor.authorSimard, J
 
dc.contributor.authorCaldes, T
 
dc.contributor.authorVaron-Mateeva, R
 
dc.contributor.authorEMBRACE,
 
dc.contributor.authorZaffaroni, D
 
dc.contributor.authorArver, B
 
dc.contributor.authorDing, YC
 
dc.contributor.authorde la Hoya, M
 
dc.contributor.authorLalloo, F
 
dc.contributor.authorLigtenberg, MJ
 
dc.contributor.authorOzcelik, H
 
dc.contributor.authorWang, X
 
dc.contributor.authorBonanni, B
 
dc.contributor.authorFredericksen, Z
 
dc.contributor.authorDouglas, F
 
dc.contributor.authorPeock, S
 
dc.contributor.authorEaston, DF
 
dc.contributor.authorBernard, L
 
dc.contributor.authorMulligan, AM
 
dc.contributor.authorDolcetti, R
 
dc.contributor.authorKriege, M
 
dc.contributor.authorBove, B
 
dc.contributor.authorJacobs, C
 
dc.contributor.authorRosenquist, R
 
dc.contributor.authorGlendon, G
 
dc.contributor.authorCIMBA,
 
dc.contributor.authorThomassen, M
 
dc.contributor.authorFrost, D
 
dc.contributor.authorSobol, H
 
dc.contributor.authorBrewer, C
 
dc.contributor.authorPapi, L
 
dc.contributor.authorCollee, JM
 
dc.contributor.authorSWE-BRCA,
 
dc.contributor.authorKarission, P
 
dc.contributor.authorHEBON,
 
dc.contributor.authorEeles, R
 
dc.contributor.authorJohn, EM
 
dc.contributor.authorStoppa-Lyonnet, D
 
dc.contributor.authorGerdes, A-M
 
dc.contributor.authorEllis, SD
 
dc.contributor.authorNathanson, K
 
dc.contributor.authorJensen, UB
 
dc.contributor.authorSinger, CF
 
dc.contributor.authorDomehek, S
 
dc.contributor.authorHodgson, S
 
dc.contributor.authorJoseph, V
 
dc.contributor.authorFrenay, M
 
dc.contributor.authorEMBRACE,
 
dc.contributor.authorAdlard, J
 
dc.contributor.authorGEMO Collaborators Study,
 
dc.contributor.authorkConFab Investigators,
 
dc.contributor.authorPiedmonte, M
 
dc.contributor.authorRebbeck, T
 
dc.contributor.authorAusems, MGEM
 
dc.contributor.authorHoudayer, C
 
dc.contributor.authorJabubowska, A
 
dc.contributor.authorSouthey, M
 
dc.contributor.authorLubinski, J
 
dc.contributor.authorMorrison, PJ
 
dc.contributor.authorJaworska, K
 
dc.contributor.authorDurda, K
 
dc.contributor.authorDavidson, R
 
dc.contributor.authorZlowowcka-Perlowska, E
 
dc.contributor.authorPlatte, R
 
dc.contributor.authorOosterwijk, JC
 
dc.contributor.authorPrieur, F
 
dc.contributor.authorOsorio, A
 
dc.contributor.authorDutra-Clarke, A
 
dc.contributor.authorDuran, M
 
dc.contributor.authorBuecher, B
 
dc.contributor.authorAndres, R
 
dc.contributor.authorBenitez, J
 
dc.contributor.authorWalker, L
 
dc.contributor.authorHamann, U
 
dc.contributor.authorCole, T
 
dc.contributor.authorMortemousque, I
 
dc.contributor.authorFineberg, E
 
dc.contributor.authorGoldgar, D
 
dc.contributor.authorHogervorst, FB
 
dc.contributor.authorvan O, TA
 
dc.contributor.authorVerhoef, S
 
dc.contributor.authorFerrer, SF
 
dc.contributor.authorMeijers-Heijboer, HEJ
 
dc.contributor.authorWijnen, J
 
dc.contributor.authorde Pauw, A
 
dc.contributor.authorGomez Garcia, EB
 
dc.contributor.authorHEBON,
 
dc.contributor.authorRogers, MT
 
dc.contributor.authorFint-Retter, A
 
dc.contributor.authorCook, J
 
dc.contributor.authorGareth Evans, D
 
dc.contributor.authorHarbst, K
 
dc.contributor.authorMazoyer, S
 
dc.contributor.authorKirk, J
 
dc.contributor.authorDonaldson, A
 
dc.contributor.authorPaterson, J
 
dc.contributor.authorDitsch, N
 
dc.contributor.authorGEMO Study Collaborators,
 
dc.contributor.authorDorkins, H
 
dc.contributor.authorCalender, A
 
dc.contributor.authorGodwin, AK
 
dc.contributor.authorDeissler, H
 
dc.contributor.authorDiez, O
 
dc.contributor.authorTea, M-K
 
dc.contributor.authorLeone, M
 
dc.contributor.authorBuys, S
 
dc.contributor.authorBressac-de Paillerets, B
 
dc.contributor.authorNevanlinna, H
 
dc.contributor.authorArnold, N
 
dc.contributor.authorCohn, D
 
dc.contributor.authorDaly, M
 
dc.contributor.authorKaulich, DG
 
dc.contributor.authorMiron, A
 
dc.contributor.authorKwong, A
 
dc.contributor.authorPankratz, VS
 
dc.contributor.authorGehrig, A
 
dc.contributor.authorCaron, O
 
dc.contributor.authorHansen, TVO
 
dc.contributor.authorHurtea, J
 
dc.contributor.authorNielsen, FC
 
dc.contributor.authorHeidemann, S
 
dc.contributor.authorOttini, L
 
dc.contributor.authorMuranen, TA
 
dc.contributor.authorTerry, MB
 
dc.contributor.authorSchmutzler, RK
 
dc.contributor.authorByron, J
 
dc.contributor.authorHopper, JL
 
dc.contributor.authorFiorica, J
 
dc.contributor.authorSutter, C
 
dc.contributor.authorSkytte, A-B
 
dc.contributor.authorLindor, NM
 
dc.contributor.authorBarkardottir, RB
 
dc.contributor.authorNiederacher, D
 
dc.contributor.authorGaudet, M
 
dc.contributor.authorKirchhoff, T
 
dc.contributor.authorCouch, FJ
 
dc.contributor.authorTolad, AE
 
dc.contributor.authorLesperance, B
 
dc.contributor.authorSWE-BRCA,
 
dc.contributor.authorRadice, P
 
dc.contributor.authorMontagna, M
 
dc.contributor.authorKast, K
 
dc.contributor.authorOliani, C
 
dc.contributor.authorImyanitov, E
 
dc.contributor.authorLindblom, A
 
dc.contributor.authorIsaacs, C
 
dc.contributor.authorWappenschmidt, B
 
dc.contributor.authorPeterlongo, P
 
dc.contributor.authorTihomirova, L
 
dc.contributor.authorKruse, TA
 
dc.contributor.authorBlanco, I
 
dc.contributor.authorSpurdle, AB
 
dc.contributor.authorLazaro, C
 
dc.contributor.authorTeule, A
 
dc.contributor.authorFiebig, B
 
dc.contributor.authorDel Valle, J
 
dc.contributor.authorPreister-Adams, S
 
dc.contributor.authorEngel, C
 
dc.contributor.authorGreene, MH
 
dc.contributor.authorGayther, SA
 
dc.contributor.authorLoman, N
 
dc.contributor.authorOdunsi, K
 
dc.contributor.authorManoukian, S
 
dc.contributor.authorGross, J
 
dc.contributor.authorKarlan, BY
 
dc.contributor.authorkConFab Investigators,
 
dc.contributor.authorOlah, E
 
dc.contributor.authorSchafer, D
 
dc.contributor.authorAndrulis, IL
 
dc.contributor.authorGadzicki, D
 
dc.date.accessioned2012-04-24T07:53:08Z
 
dc.date.available2012-04-24T07:53:08Z
 
dc.date.issued2012
 
dc.description.abstractINTRODUCTION: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). METHODS: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. RESULTS: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 x 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 x 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 x 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). CONCLUSIONS: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.
 
dc.description.naturepublished_or_final_version
 
dc.identifier.citationBreast Cancer Research, 2012, v. 14 n. 1, article no. R33 [How to Cite?]
DOI: http://dx.doi.org/10.1186/bcr3121
 
dc.identifier.doihttp://dx.doi.org/10.1186/bcr3121
 
dc.identifier.epageR33
 
dc.identifier.hkuros199129
 
dc.identifier.hkuros198377
 
dc.identifier.issn1465-542X
2013 Impact Factor: 5.881
2013 SCImago Journal Rankings: 3.209
 
dc.identifier.issue1
 
dc.identifier.pmcidPMC3496151
 
dc.identifier.pmid22348646
 
dc.identifier.spageR33
 
dc.identifier.urihttp://hdl.handle.net/10722/146420
 
dc.identifier.volume14
 
dc.languageeng
 
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://breast-cancer-research.com/
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofBreast Cancer Research
 
dc.rightsBreast Cancer Research. Copyright © BioMed Central Ltd
 
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
 
dc.subject.meshBRCA1 Protein - genetics
 
dc.subject.meshBRCA2 Protein - genetics
 
dc.subject.meshChromosomes, Human, Pair 12 - genetics
 
dc.subject.meshChromosomes, Human, Pair 9 - genetics
 
dc.subject.meshHereditary Breast and Ovarian Cancer Syndrome - genetics
 
dc.titleCommon variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
 
dc.typeArticle
 
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<contributor.author>Kuchenbaecker, KB</contributor.author>
<contributor.author>Soucy, P</contributor.author>
<contributor.author>Beesley, J</contributor.author>
<contributor.author>Chen, X</contributor.author>
<contributor.author>McGuffog, L</contributor.author>
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<contributor.author>Adlard, J</contributor.author>
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<contributor.author>Harbst, K</contributor.author>
<contributor.author>Mazoyer, S</contributor.author>
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<contributor.author>SWE-BRCA,</contributor.author>
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<date.accessioned>2012-04-24T07:53:08Z</date.accessioned>
<date.available>2012-04-24T07:53:08Z</date.available>
<date.issued>2012</date.issued>
<identifier.citation>Breast Cancer Research, 2012, v. 14 n. 1, article no. R33</identifier.citation>
<identifier.issn>1465-542X</identifier.issn>
<identifier.uri>http://hdl.handle.net/10722/146420</identifier.uri>
<description.abstract>INTRODUCTION: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). METHODS: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. RESULTS: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 x 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 x 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 x 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). CONCLUSIONS: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.</description.abstract>
<language>eng</language>
<publisher>BioMed Central Ltd. The Journal&apos;s web site is located at http://breast-cancer-research.com/</publisher>
<relation.ispartof>Breast Cancer Research</relation.ispartof>
<rights>Breast Cancer Research. Copyright &#169; BioMed Central Ltd</rights>
<rights>Creative Commons: Attribution 3.0 Hong Kong License</rights>
<subject.mesh>BRCA1 Protein - genetics</subject.mesh>
<subject.mesh>BRCA2 Protein - genetics</subject.mesh>
<subject.mesh>Chromosomes, Human, Pair 12 - genetics</subject.mesh>
<subject.mesh>Chromosomes, Human, Pair 9 - genetics</subject.mesh>
<subject.mesh>Hereditary Breast and Ovarian Cancer Syndrome - genetics</subject.mesh>
<title>Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers</title>
<type>Article</type>
<description.nature>published_or_final_version</description.nature>
<identifier.doi>10.1186/bcr3121</identifier.doi>
<identifier.pmid>22348646</identifier.pmid>
<identifier.pmcid>PMC3496151</identifier.pmcid>
<identifier.hkuros>199129</identifier.hkuros>
<identifier.hkuros>198377</identifier.hkuros>
<identifier.volume>14</identifier.volume>
<identifier.issue>1</identifier.issue>
<identifier.spage>R33</identifier.spage>
<identifier.epage>R33</identifier.epage>
<publisher.place>United Kingdom</publisher.place>
<bitstream.url>http://hub.hku.hk/bitstream/10722/146420/1/Content.pdf</bitstream.url>
</item>