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
2011 Impact Factor: 5.245
2011 SCImago Journal Rankings: 0.681
DOIhttp://dx.doi.org/10.1186/bcr3121
PubMed Central IDPMC3496151
DC Field
Value
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
2011 Impact Factor: 5.245
2011 SCImago Journal Rankings: 0.681
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