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dc.contributor.authorLin, Wei-Yu
dc.contributor.authorCamp, Nicola J.
dc.contributor.authorGhoussaini, Maya
dc.contributor.authorBeesley, Jonathan
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorHopper, John L.
dc.contributor.authorApicella, Carmel
dc.contributor.authorSouthey, Melissa C.
dc.contributor.authorStone, Jennifer
dc.contributor.authorSchmidt, Marjanka K.
dc.contributor.authorBroeks, Annegien
dc.contributor.authorVan't Veer, Laura J.
dc.contributor.authorTh Rutgers, Emiel J.
dc.contributor.authorMuir, Kenneth
dc.contributor.authorLophatananon, Artitaya
dc.contributor.authorStewart-Brown, Sarah
dc.contributor.authorSiriwanarangsan, Pornthep
dc.contributor.authorFasching, Peter A.
dc.contributor.authorHaeberle, Lothar
dc.contributor.authorEkici, Arif B.
dc.contributor.authorBeckmann, Matthias W.
dc.contributor.authorPeto, Julian
dc.contributor.authorDos-Santos-Silva, Isabel
dc.contributor.authorFletcher, Olivia
dc.contributor.authorJohnson, Nichola
dc.contributor.authorBolla, Manjeet K.
dc.contributor.authorWang, Qin
dc.contributor.authorDennis, Joe
dc.contributor.authorSawyer, Elinor J.
dc.contributor.authorCheng, Timothy
dc.contributor.authorTomlinson, Ian
dc.contributor.authorKerin, Michael J.
dc.contributor.authorMiller, Nicola
dc.contributor.authorMarmé, Frederik
dc.contributor.authorSurowy, Harald M.
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorGuénel, Pascal
dc.contributor.authorTruong, Thérèse
dc.contributor.authorMenegaux, Florence
dc.contributor.authorMulot, Claire
dc.contributor.authorBojesen, Stig E.
dc.contributor.authorNordestgaard, Børge G.
dc.contributor.authorNielsen, Sune F.
dc.contributor.authorFlyger, Henrik
dc.contributor.authorBenitez, Javier
dc.contributor.authorZamora, M. Pilar
dc.contributor.authorArias Perez, Jose Ignacio
dc.contributor.authorMenéndez, Primitiva
dc.contributor.authorGonzález-Neira, Anna
dc.contributor.authorPita, Guillermo
dc.contributor.authorAlonso, M. Rosario
dc.contributor.authorÁlvarez, Nuria
dc.contributor.authorHerrero, Daniel
dc.contributor.authorAnton-Culver, Hoda
dc.contributor.authorBrenner, Hermann
dc.contributor.authorDieffenbach, Aida Karina
dc.contributor.authorArndt, Volker
dc.contributor.authorStegmaier, Christa
dc.contributor.authorMeindl, Alfons
dc.contributor.authorLichtner, Peter
dc.contributor.authorSchmutzler, Rita K.
dc.contributor.authorMüller-Myhsok, Bertram
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorBrüning, Thomas
dc.contributor.authorKo, Yon-Dschun
dc.contributor.authorTessier, Daniel C.
dc.contributor.authorVincent, Daniel
dc.contributor.authorBacot, Francois
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorAittomäki, Kristiina
dc.contributor.authorBlomqvist, Carl
dc.contributor.authorKhan, Sofia
dc.contributor.authorMatsuo, Keitaro
dc.contributor.authorIto, Hidemi
dc.contributor.authorIwata, Hiroji
dc.contributor.authorHorio, Akiyo
dc.contributor.authorBogdanova, Natalia V.
dc.contributor.authorAntonenkova, Natalia N.
dc.contributor.authorDörk, Thilo
dc.contributor.authorLindblom, Annika
dc.contributor.authorMargolin, Sara
dc.contributor.authorMannermaa, Arto
dc.contributor.authorKataja, Vesa
dc.contributor.authorKosma, Veli-Matti
dc.contributor.authorHartikainen, Jaana M.
dc.contributor.authorWu, Anna H.
dc.contributor.authorTseng, Chiu-Chen
dc.contributor.authorVan Den Berg, David
dc.contributor.authorStram, Daniel O.
dc.contributor.authorNeven, Patrick
dc.contributor.authorWauters, Els
dc.contributor.authorWildiers, Hans
dc.contributor.authorLambrechts, Diether
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorRudolph, Anja
dc.contributor.authorSeibold, Petra
dc.contributor.authorFlesch-Janys, Dieter
dc.contributor.authorRadice, Paolo
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorManoukian, Siranoush
dc.contributor.authorBonanni, Bernardo
dc.contributor.authorCouch, Fergus J.
dc.contributor.authorWang, Xianshu
dc.contributor.authorVachon, Celine
dc.contributor.authorPurrington, Kristen
dc.contributor.authorGiles, Graham G.
dc.contributor.authorMilne, Roger L.
dc.contributor.authorMclean, Catriona
dc.contributor.authorHaiman, Christopher A.
dc.contributor.authorHenderson, Brian E.
dc.contributor.authorSchumacher, Fredrick
dc.contributor.authorLe Marchand, Loic
dc.contributor.authorSimard, Jacques
dc.contributor.authorGoldberg, Mark S.
dc.contributor.authorLabrèche, France
dc.contributor.authorDumont, Martine
dc.contributor.authorTeo, Soo Hwang
dc.contributor.authorYip, Cheng Har
dc.contributor.authorHassan, Norhashimah
dc.contributor.authorVithana, Eranga Nishanthie
dc.contributor.authorKristensen, Vessela
dc.contributor.authorZheng, Wei
dc.contributor.authorDeming-Halverson, Sandra
dc.contributor.authorShrubsole, Martha J.
dc.contributor.authorLong, Jirong
dc.contributor.authorWinqvist, Robert
dc.contributor.authorPylkäs, Katri
dc.contributor.authorJukkola-Vuorinen, Arja
dc.contributor.authorKauppila, Saila
dc.contributor.authorAndrulis, Irene L.
dc.contributor.authorKnight, Julia A.
dc.contributor.authorGlendon, Gord
dc.contributor.authorTchatchou, Sandrine
dc.contributor.authorDevilee, Peter
dc.contributor.authorTollenaar, Robert A.E.M.
dc.contributor.authorSeynaeve, Caroline
dc.contributor.authorVan Asperen, Christi J.
dc.contributor.authorGarcía-Closas, Montserrat
dc.contributor.authorFigueroa, Jonine
dc.contributor.authorLissowska, Jolanta
dc.contributor.authorBrinton, Louise
dc.contributor.authorCzene, Kamila
dc.contributor.authorDarabi, Hatef
dc.contributor.authorEriksson, Mikael
dc.contributor.authorBrand, Judith S.
dc.contributor.authorHooning, Maartje J.
dc.contributor.authorHollestelle, Antoinette
dc.contributor.authorVan Den Ouweland, Ans M.W.
dc.contributor.authorJager, Agnes
dc.contributor.authorLi, Jingmei
dc.contributor.authorLiu, Jianjun
dc.contributor.authorHumphreys, Keith
dc.contributor.authorShu, Xiao-Ou
dc.contributor.authorLu, Wei
dc.contributor.authorGao, Yu-Tang
dc.contributor.authorCai, Hui
dc.contributor.authorCross, Simon S.
dc.contributor.authorReed, Malcolm W. R.
dc.contributor.authorBlot, William
dc.contributor.authorSignorello, Lisa B.
dc.contributor.authorCai, Qiuyin
dc.contributor.authorPharoah, Paul D.P.
dc.contributor.authorPerkins, Barbara
dc.contributor.authorShah, Mitul
dc.contributor.authorBlows, Fiona M.
dc.contributor.authorKang, Daehee
dc.contributor.authorYoo, Keun-Young
dc.contributor.authorNoh, Dong-Young
dc.contributor.authorHartman, Mikael
dc.contributor.authorMiao, Hui
dc.contributor.authorChia, Kee Seng
dc.contributor.authorPutti, Thomas Choudary
dc.contributor.authorHamann, Ute
dc.contributor.authorLuccarini, Craig
dc.contributor.authorBaynes, Caroline
dc.contributor.authorAhmed, Shahana
dc.contributor.authorMaranian, Mel
dc.contributor.authorHealey, Catherine S.
dc.contributor.authorJakubowska, Anna
dc.contributor.authorLubinski, Jan
dc.contributor.authorJaworska-Bieniek, Katarzyna
dc.contributor.authorDurda, Katarzyna
dc.contributor.authorSangrajrang, Suleeporn
dc.contributor.authorGaborieau, Valerie
dc.contributor.authorBrennan, Paul
dc.contributor.authorMckay, James
dc.contributor.authorSlager, Susan
dc.contributor.authorToland, Amanda E.
dc.contributor.authorYannoukakos, Drakoulis
dc.contributor.authorShen, Chen-Yang
dc.contributor.authorHsiung, Chia-Ni
dc.contributor.authorWu, Pei-Ei
dc.contributor.authorDing, Shian-ling
dc.contributor.authorAshworth, Alan
dc.contributor.authorJones, Michael
dc.contributor.authorOrr, Nick
dc.contributor.authorSwerdlow, Anthony J
dc.contributor.authorTsimiklis, Helen
dc.contributor.authorMakalic, Enes
dc.contributor.authorSchmidt, Daniel F.
dc.contributor.authorBui, Quang M.
dc.contributor.authorChanock, Stephen J.
dc.contributor.authorHunter, David J.
dc.contributor.authorHein, Rebecca
dc.contributor.authorDahmen, Norbert
dc.contributor.authorBeckmann, Lars
dc.contributor.authorAaltonen, Kirsimari
dc.contributor.authorMuranen, Taru A.
dc.contributor.authorHeikkinen, Tuomas
dc.contributor.authorIrwanto, Astrid
dc.contributor.authorRahman, Nazneen
dc.contributor.authorTurnbull, Clare A.
dc.contributor.authorWaisfisz, Quinten
dc.contributor.authorMeijers-Heijboer, Hanne E. J.
dc.contributor.authorAdank, Muriel A.
dc.contributor.authorVan Der Luijt, Rob B.
dc.contributor.authorHall, Per
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorDunning, Alison
dc.contributor.authorEaston, Douglas F.
dc.contributor.authorCox, Angela
dc.date.accessioned2018-09-20T16:14:38Z
dc.date.available2018-09-20T16:14:38Z
dc.date.issued2014-08-28
dc.identifier.citationLin, Wei-Yu; Camp, Nicola J. Ghoussaini, Maya; Beesley, Jonathan; Michailidou, Kyriaki; Hopper, John L.; Apicella, Carmel; Southey, Melissa C.; Stone, Jennifer; Schmidt, Marjanka K.; Broeks, Annegien; Van't Veer, Laura J.; Th Rutgers, Emiel J.; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Fasching, Peter A.; Haeberle, Lothar; Ekici, Arif B.; Beckmann, Matthias W.; Peto, Julian; Dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Sawyer, Elinor J.; Cheng, Timothy; Tomlinson, Ian; Kerin, Michael J.; Miller, Nicola; Marmé, Frederik; Surowy, Harald M.; Burwinkel, Barbara; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Mulot, Claire; Bojesen, Stig E.; Nordestgaard, Børge G.; Nielsen, Sune F.; Flyger, Henrik; Benitez, Javier; Zamora, M. Pilar; Arias Perez, Jose Ignacio; Menéndez, Primitiva; González-Neira, Anna; Pita, Guillermo; Alonso, M. Rosario; Álvarez, Nuria; Herrero, Daniel; Anton-Culver, Hoda; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volker; Stegmaier, Christa; Meindl, Alfons; Lichtner, Peter; Schmutzler, Rita K.; Müller-Myhsok, Bertram; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Tessier, Daniel C.; Vincent, Daniel; Bacot, Francois; Nevanlinna, Heli; Aittomäki, Kristiina; Blomqvist, Carl; Khan, Sofia; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Horio, Akiyo; Bogdanova, Natalia V.; Antonenkova, Natalia N.; Dörk, Thilo; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M.; Wu, Anna H.; Tseng, Chiu-Chen; Van Den Berg, David; Stram, Daniel O.; Neven, Patrick; Wauters, Els; Wildiers, Hans; Lambrechts, Diether; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Radice, Paolo; Peterlongo, Paolo; Manoukian, Siranoush; Bonanni, Bernardo; Couch, Fergus J.; Wang, Xianshu; Vachon, Celine; Purrington, Kristen; Giles, Graham G.; Milne, Roger L.; Mclean, Catriona; Haiman, Christopher A.; Henderson, Brian E.; Schumacher, Fredrick; Le Marchand, Loic; Simard, Jacques; Goldberg, Mark S.; Labrèche, France; Dumont, Martine; Teo, Soo Hwang; Yip, Cheng Har; Hassan, Norhashimah; Vithana, Eranga Nishanthie; Kristensen, Vessela; Zheng, Wei; Deming-Halverson, Sandra; Shrubsole, Martha J.; Long, Jirong; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Kauppila, Saila; Andrulis, Irene L.; Knight, Julia A.; Glendon, Gord; Tchatchou, Sandrine; Devilee, Peter; Tollenaar, Robert A.E.M.; Seynaeve, Caroline; Van Asperen, Christi J.; García-Closas, Montserrat; Figueroa, Jonine; Lissowska, Jolanta; Brinton, Louise; Czene, Kamila; Darabi, Hatef; Eriksson, Mikael; Brand, Judith S.; Hooning, Maartje J.; Hollestelle, Antoinette; Van Den Ouweland, Ans M.W.; Jager, Agnes; Li, Jingmei; Liu, Jianjun; Humphreys, Keith; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Cross, Simon S.; Reed, Malcolm W. R.; Blot, William; Signorello, Lisa B.; Cai, Qiuyin; Pharoah, Paul D.P.; Perkins, Barbara; Shah, Mitul; Blows, Fiona M.; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Hartman, Mikael; Miao, Hui; Chia, Kee Seng; Putti, Thomas Choudary; Hamann, Ute; Luccarini, Craig; Baynes, Caroline; Ahmed, Shahana; Maranian, Mel; Healey, Catherine S.; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; Mckay, James; Slager, Susan; Toland, Amanda E.; Yannoukakos, Drakoulis; Shen, Chen-Yang; Hsiung, Chia-Ni; Wu, Pei-Ei; Ding, Shian-ling; Ashworth, Alan; Jones, Michael; Orr, Nick; Swerdlow, Anthony J; Tsimiklis, Helen; Makalic, Enes; Schmidt, Daniel F.; Bui, Quang M.; Chanock, Stephen J.; Hunter, David J.; Hein, Rebecca; Dahmen, Norbert; Beckmann, Lars; Aaltonen, Kirsimari; Muranen, Taru A.; Heikkinen, Tuomas; Irwanto, Astrid; Rahman, Nazneen; Turnbull, Clare A.; Waisfisz, Quinten; Meijers-Heijboer, Hanne E. J.; Adank, Muriel A.; Van Der Luijt, Rob B.; Hall, Per; Chenevix-Trench, Georgia; Dunning, Alison; Easton, Douglas F.; Cox, Angela (2014). Identification and characterization of novel associations in the casp8/als2cr12 region on chromosome 2 with breast cancer risk. Human Molecular Genetics 24 (1), 285-298
dc.identifier.issn0964-6906,1460-2083
dc.identifier.urihttp://hdl.handle.net/10379/12458
dc.description.abstractPrevious studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, Cl)] for the minor allele of 1.05(1.03-1.07), P = 1 x 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 x 10(-6)), yielding a combined OR (95% Cl) of 1.06(1.04-1.08), P = 1 x 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.
dc.publisherOxford University Press (OUP)
dc.relation.ispartofHuman Molecular Genetics
dc.subjectgenome-wide association
dc.subjectsusceptibility loci
dc.subjectvariants
dc.subjectcasp8
dc.subjectenhancers
dc.subjectdisease
dc.subjectgene
dc.titleIdentification and characterization of novel associations in the casp8/als2cr12 region on chromosome 2 with breast cancer risk
dc.typeArticle
dc.identifier.doi10.1093/hmg/ddu431
dc.local.publishedsourcehttps://academic.oup.com/hmg/article-pdf/24/1/285/17262386/ddu431.pdf
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