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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

TitleCommon variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
Authors
Antoniou, Antonis CKuchenbaecker, Karoline BSoucy, PennyBeesley, JonathanChen, XiaoqingMcGuffog, LesleyLee, AndrewBarrowdale, DanielHealey, SueSinilnikova, Olga MCaligo, Maria ALoman, NiklasHarbst, KatjaLindblom, AnnikaArver, BritaRosenquist, RichardKarlsson, PerNathanson, KateDomchek, SusanRebbeck, TimJakubowska, AnnaLubinski, JanJaworska, KatarzynaDurda, KatarzynaZłowowcka-Perłowska, ElżbietaOsorio, AnaDurán, MercedesAndrés, RaquelBenítez, JavierHamann, UteHogervorst, Frans Bvan Os, Theo AVerhoef, SennoMeijers-Heijboer, Hanne EJWijnen, JuulGómez Garcia, Encarna BLigtenberg, Marjolijn JKriege, MiekeCollée, J MargrietAusems, Margreet GEMOosterwijk, Jan CPeock, SusanFrost, DebraEllis, Steve DPlatte, RadkaFineberg, ElenaEvans, D GarethLalloo, FionaJacobs, ChrisEeles, RosAdlard, JulianDavidson, RosemarieCole, TrevorCook, JackiePaterson, JoanDouglas, FionaBrewer, CaroleHodgson, ShirleyMorrison, Patrick JWalker, LisaRogers, Mark TDonaldson, AlanDorkins, HuwGodwin, Andrew KBove, BetsyStoppa-Lyonnet, DominiqueHoudayer, ClaudeBuecher, Brunode Pauw, AntoineMazoyer, SylvieCalender, AlainLéoné, MélanieBressac- de Paillerets, BrigitteCaron, OlivierSobol, HagayFrenay, MarcPrieur, FabienneFerrer, SandraMortemousque, IsabelleBuys, SaundraDaly, MaryMiron, AlexanderTerry, MaryHopper, John LJohn, Esther MSouthey, MelissaGoldgar, DavidSinger, Christian FFink-Retter, AnnelieseTea, Muy-KhengKaulich, DaphneHansen, Thomas VONielsen, Finn CBarkardottir, Rosa BGaudet, MiaKirchhoff, TomasJoseph, VijaiDutra-Clarke, AnaOffit, KennethPiedmonte, MarionKirk, JudyCohn, DavidHurteau, JeanByron, JohnFiorica, JamesToland, Amanda EMontagna, MarcoOliani, CristinaImyanitov, EvgenyIsaacs, ClaudineTihomirova, LaimaBlanco, IgnacioLazaro, ConxiTeulé, AlexValle, J DelGayther, Simon AOdunsi, KunleGross, JennyKarlan, Beth YOlah, EdithTeo, Soo-HwangGanz, Patricia ABeattie, Mary SDorfling, Cecelia Mvan Rensburg, ElizabethDiez, OrlandKwong, AvaSchmutzler, Rita KWappenschmidt, BarbaraEngel, ChristophMeindl, AlfonsDitsch, NinaArnold, NorbertHeidemann, SimoneNiederacher, DieterPreisler-Adams, SabineGadzicki, DorotheaVaron-Mateeva, RaymondaDeissler, HelmutGehrig, AndreaSutter, ChristianKast, KarinFiebig, BrittaSchäfer, DieterCaldes, Trinidadde la Hoya, MiguelNevanlinna, HeliMuranen, Taru ALespérance, BernardSpurdle, Amanda BNeuhausen, Susan LDing, Yuan CWang, XianshuFredericksen, ZacharyPankratz, Vernon SLindor, Noralane MPeterlongo, PaoloManoukian, SiranoushPeissel, BernardZaffaroni, DanielaBonanni, BernardoBernard, LorisDolcetti, RiccardoPapi, LauraOttini, LauraRadice, PaoloGreene, Mark HLoud, Jennifer TAndrulis, Irene LOzcelik, HilmiMulligan, AnnaGlendon, GordThomassen, MadsGerdes, Anne-MarieJensen, Uffe BSkytte, Anne-BineKruse, Torben AChenevix-Trench, GeorgiaCouch, Fergus JSimard, JacquesEaston, Douglas F
Issue Date2012
PublisherBioMed Central Ltd. The Journal's web site is located at http://breast-cancer-research.com/
Citation
Breast Cancer Research, 2012, v. 14 n. 1, article no. R33 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/146420
ISSN
2015 Impact Factor: 5.211
2015 SCImago Journal Rankings: 3.133
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorAntoniou, Antonis C-
dc.contributor.authorKuchenbaecker, Karoline B-
dc.contributor.authorSoucy, Penny-
dc.contributor.authorBeesley, Jonathan-
dc.contributor.authorChen, Xiaoqing-
dc.contributor.authorMcGuffog, Lesley-
dc.contributor.authorLee, Andrew-
dc.contributor.authorBarrowdale, Daniel-
dc.contributor.authorHealey, Sue-
dc.contributor.authorSinilnikova, Olga M-
dc.contributor.authorCaligo, Maria A-
dc.contributor.authorLoman, Niklas-
dc.contributor.authorHarbst, Katja-
dc.contributor.authorLindblom, Annika-
dc.contributor.authorArver, Brita-
dc.contributor.authorRosenquist, Richard-
dc.contributor.authorKarlsson, Per-
dc.contributor.authorNathanson, Kate-
dc.contributor.authorDomchek, Susan-
dc.contributor.authorRebbeck, Tim-
dc.contributor.authorJakubowska, Anna-
dc.contributor.authorLubinski, Jan-
dc.contributor.authorJaworska, Katarzyna-
dc.contributor.authorDurda, Katarzyna-
dc.contributor.authorZłowowcka-Perłowska, Elżbieta-
dc.contributor.authorOsorio, Ana-
dc.contributor.authorDurán, Mercedes-
dc.contributor.authorAndrés, Raquel-
dc.contributor.authorBenítez, Javier-
dc.contributor.authorHamann, Ute-
dc.contributor.authorHogervorst, Frans B-
dc.contributor.authorvan Os, Theo A-
dc.contributor.authorVerhoef, Senno-
dc.contributor.authorMeijers-Heijboer, Hanne EJ-
dc.contributor.authorWijnen, Juul-
dc.contributor.authorGómez Garcia, Encarna B-
dc.contributor.authorLigtenberg, Marjolijn J-
dc.contributor.authorKriege, Mieke-
dc.contributor.authorCollée, J Margriet-
dc.contributor.authorAusems, Margreet GEM-
dc.contributor.authorOosterwijk, Jan C-
dc.contributor.authorPeock, Susan-
dc.contributor.authorFrost, Debra-
dc.contributor.authorEllis, Steve D-
dc.contributor.authorPlatte, Radka-
dc.contributor.authorFineberg, Elena-
dc.contributor.authorEvans, D Gareth-
dc.contributor.authorLalloo, Fiona-
dc.contributor.authorJacobs, Chris-
dc.contributor.authorEeles, Ros-
dc.contributor.authorAdlard, Julian-
dc.contributor.authorDavidson, Rosemarie-
dc.contributor.authorCole, Trevor-
dc.contributor.authorCook, Jackie-
dc.contributor.authorPaterson, Joan-
dc.contributor.authorDouglas, Fiona-
dc.contributor.authorBrewer, Carole-
dc.contributor.authorHodgson, Shirley-
dc.contributor.authorMorrison, Patrick J-
dc.contributor.authorWalker, Lisa-
dc.contributor.authorRogers, Mark T-
dc.contributor.authorDonaldson, Alan-
dc.contributor.authorDorkins, Huw-
dc.contributor.authorGodwin, Andrew K-
dc.contributor.authorBove, Betsy-
dc.contributor.authorStoppa-Lyonnet, Dominique-
dc.contributor.authorHoudayer, Claude-
dc.contributor.authorBuecher, Bruno-
dc.contributor.authorde Pauw, Antoine-
dc.contributor.authorMazoyer, Sylvie-
dc.contributor.authorCalender, Alain-
dc.contributor.authorLéoné, Mélanie-
dc.contributor.authorBressac- de Paillerets, Brigitte-
dc.contributor.authorCaron, Olivier-
dc.contributor.authorSobol, Hagay-
dc.contributor.authorFrenay, Marc-
dc.contributor.authorPrieur, Fabienne-
dc.contributor.authorFerrer, Sandra-
dc.contributor.authorMortemousque, Isabelle-
dc.contributor.authorBuys, Saundra-
dc.contributor.authorDaly, Mary-
dc.contributor.authorMiron, Alexander-
dc.contributor.authorTerry, Mary-
dc.contributor.authorHopper, John L-
dc.contributor.authorJohn, Esther M-
dc.contributor.authorSouthey, Melissa-
dc.contributor.authorGoldgar, David-
dc.contributor.authorSinger, Christian F-
dc.contributor.authorFink-Retter, Anneliese-
dc.contributor.authorTea, Muy-Kheng-
dc.contributor.authorKaulich, Daphne-
dc.contributor.authorHansen, Thomas VO-
dc.contributor.authorNielsen, Finn C-
dc.contributor.authorBarkardottir, Rosa B-
dc.contributor.authorGaudet, Mia-
dc.contributor.authorKirchhoff, Tomas-
dc.contributor.authorJoseph, Vijai-
dc.contributor.authorDutra-Clarke, Ana-
dc.contributor.authorOffit, Kenneth-
dc.contributor.authorPiedmonte, Marion-
dc.contributor.authorKirk, Judy-
dc.contributor.authorCohn, David-
dc.contributor.authorHurteau, Jean-
dc.contributor.authorByron, John-
dc.contributor.authorFiorica, James-
dc.contributor.authorToland, Amanda E-
dc.contributor.authorMontagna, Marco-
dc.contributor.authorOliani, Cristina-
dc.contributor.authorImyanitov, Evgeny-
dc.contributor.authorIsaacs, Claudine-
dc.contributor.authorTihomirova, Laima-
dc.contributor.authorBlanco, Ignacio-
dc.contributor.authorLazaro, Conxi-
dc.contributor.authorTeulé, Alex-
dc.contributor.authorValle, J Del-
dc.contributor.authorGayther, Simon A-
dc.contributor.authorOdunsi, Kunle-
dc.contributor.authorGross, Jenny-
dc.contributor.authorKarlan, Beth Y-
dc.contributor.authorOlah, Edith-
dc.contributor.authorTeo, Soo-Hwang-
dc.contributor.authorGanz, Patricia A-
dc.contributor.authorBeattie, Mary S-
dc.contributor.authorDorfling, Cecelia M-
dc.contributor.authorvan Rensburg, Elizabeth-
dc.contributor.authorDiez, Orland-
dc.contributor.authorKwong, Ava-
dc.contributor.authorSchmutzler, Rita K-
dc.contributor.authorWappenschmidt, Barbara-
dc.contributor.authorEngel, Christoph-
dc.contributor.authorMeindl, Alfons-
dc.contributor.authorDitsch, Nina-
dc.contributor.authorArnold, Norbert-
dc.contributor.authorHeidemann, Simone-
dc.contributor.authorNiederacher, Dieter-
dc.contributor.authorPreisler-Adams, Sabine-
dc.contributor.authorGadzicki, Dorothea-
dc.contributor.authorVaron-Mateeva, Raymonda-
dc.contributor.authorDeissler, Helmut-
dc.contributor.authorGehrig, Andrea-
dc.contributor.authorSutter, Christian-
dc.contributor.authorKast, Karin-
dc.contributor.authorFiebig, Britta-
dc.contributor.authorSchäfer, Dieter-
dc.contributor.authorCaldes, Trinidad-
dc.contributor.authorde la Hoya, Miguel-
dc.contributor.authorNevanlinna, Heli-
dc.contributor.authorMuranen, Taru A-
dc.contributor.authorLespérance, Bernard-
dc.contributor.authorSpurdle, Amanda B-
dc.contributor.authorNeuhausen, Susan L-
dc.contributor.authorDing, Yuan C-
dc.contributor.authorWang, Xianshu-
dc.contributor.authorFredericksen, Zachary-
dc.contributor.authorPankratz, Vernon S-
dc.contributor.authorLindor, Noralane M-
dc.contributor.authorPeterlongo, Paolo-
dc.contributor.authorManoukian, Siranoush-
dc.contributor.authorPeissel, Bernard-
dc.contributor.authorZaffaroni, Daniela-
dc.contributor.authorBonanni, Bernardo-
dc.contributor.authorBernard, Loris-
dc.contributor.authorDolcetti, Riccardo-
dc.contributor.authorPapi, Laura-
dc.contributor.authorOttini, Laura-
dc.contributor.authorRadice, Paolo-
dc.contributor.authorGreene, Mark H-
dc.contributor.authorLoud, Jennifer T-
dc.contributor.authorAndrulis, Irene L-
dc.contributor.authorOzcelik, Hilmi-
dc.contributor.authorMulligan, Anna-
dc.contributor.authorGlendon, Gord-
dc.contributor.authorThomassen, Mads-
dc.contributor.authorGerdes, Anne-Marie-
dc.contributor.authorJensen, Uffe B-
dc.contributor.authorSkytte, Anne-Bine-
dc.contributor.authorKruse, Torben A-
dc.contributor.authorChenevix-Trench, Georgia-
dc.contributor.authorCouch, Fergus J-
dc.contributor.authorSimard, Jacques-
dc.contributor.authorEaston, Douglas F-
dc.date.accessioned2012-04-24T07:53:08Z-
dc.date.available2012-04-24T07:53:08Z-
dc.date.issued2012en_US
dc.identifier.citationBreast Cancer Research, 2012, v. 14 n. 1, article no. R33en_US
dc.identifier.issn1465-542Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/146420-
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.languageengen_US
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://breast-cancer-research.com/en_US
dc.relation.ispartofBreast Cancer Researchen_US
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 carriersen_US
dc.typeArticleen_US
dc.identifier.emailKwong, A: avakwong@hkucc.hku.hken_US
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1186/bcr3121-
dc.identifier.pmid22348646-
dc.identifier.pmcidPMC3496151-
dc.identifier.scopuseid_2-s2.0-84862821318-
dc.identifier.hkuros199129en_US
dc.identifier.hkuros198377-
dc.identifier.volume14en_US
dc.identifier.issue1en_US
dc.identifier.spageR33en_US
dc.identifier.epageR33en_US
dc.identifier.isiWOS:000307444100042-
dc.publisher.placeUnited Kingdomen_US

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