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dc.contributor.authorGlubb, Dylan M.
dc.contributor.authorMaranian, Mel J.
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorPooley, Karen A.
dc.contributor.authorMeyer, Kerstin B.
dc.contributor.authorKar, Siddhartha
dc.contributor.authorCarlebur, Saskia
dc.contributor.authorO’Reilly, Martin
dc.contributor.authorBetts, Joshua A.
dc.contributor.authorHillman, Kristine M.
dc.contributor.authorKaufmann, Susanne
dc.contributor.authorBeesley, Jonathan
dc.contributor.authorCanisius, Sander
dc.contributor.authorHopper, John L.
dc.contributor.authorSouthey, Melissa C.
dc.contributor.authorTsimiklis, Helen
dc.contributor.authorApicella, Carmel
dc.contributor.authorSchmidt, Marjanka K.
dc.contributor.authorBroeks, Annegien
dc.contributor.authorHogervorst, Frans B.
dc.contributor.authorvan der Schoot, C. Ellen
dc.contributor.authorMuir, Kenneth
dc.contributor.authorLophatananon, Artitaya
dc.contributor.authorStewart-Brown, Sarah
dc.contributor.authorSiriwanarangsan, Pornthep
dc.contributor.authorFasching, Peter A.
dc.contributor.authorRuebner, Matthias
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.authorPharoah, Paul D.P.
dc.contributor.authorBolla, Manjeet K.
dc.contributor.authorWang, Qin
dc.contributor.authorDennis, Joe
dc.contributor.authorSawyer, Elinor J.
dc.contributor.authorTomlinson, Ian
dc.contributor.authorKerin, Michael J.
dc.contributor.authorMiller, Nicola
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorMarme, Frederik
dc.contributor.authorYang, Rongxi
dc.contributor.authorSurowy, Harald
dc.contributor.authorGuénel, Pascal
dc.contributor.authorTruong, Thérèse
dc.contributor.authorMenegaux, Florence
dc.contributor.authorSanchez, Marie
dc.contributor.authorBojesen, Stig E.
dc.contributor.authorNordestgaard, Børge G.
dc.contributor.authorNielsen, Sune F.
dc.contributor.authorFlyger, Henrik
dc.contributor.authorGonzález-Neira, Anna
dc.contributor.authorBenitez, Javier
dc.contributor.authorZamora, M. Pilar
dc.contributor.authorArias Perez, Jose Ignacio
dc.contributor.authorAnton-Culver, Hoda
dc.contributor.authorNeuhausen, Susan L.
dc.contributor.authorBrenner, Hermann
dc.contributor.authorDieffenbach, Aida Karina
dc.contributor.authorArndt, Volker
dc.contributor.authorStegmaier, Christa
dc.contributor.authorMeindl, Alfons
dc.contributor.authorSchmutzler, Rita K.
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorKo, Yon-Dschun
dc.contributor.authorBrüning, Thomas
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorMuranen, Taru A.
dc.contributor.authorAittomäki, Kristiina
dc.contributor.authorBlomqvist, Carl
dc.contributor.authorMatsuo, Keitaro
dc.contributor.authorIto, Hidemi
dc.contributor.authorIwata, Hiroji
dc.contributor.authorTanaka, Hideo
dc.contributor.authorDörk, Thilo
dc.contributor.authorBogdanova, Natalia V.
dc.contributor.authorHelbig, Sonja
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.authorLambrechts, Diether
dc.contributor.authorZhao, Hui
dc.contributor.authorWeltens, Caroline
dc.contributor.authorvan Limbergen, Erik
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorFlesch-Janys, Dieter
dc.contributor.authorRudolph, Anja
dc.contributor.authorSeibold, Petra
dc.contributor.authorRadice, Paolo
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorBarile, Monica
dc.contributor.authorCapra, Fabio
dc.contributor.authorCouch, Fergus J.
dc.contributor.authorOlson, Janet E.
dc.contributor.authorHallberg, Emily
dc.contributor.authorVachon, Celine
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.authorSee, Mee-Hoong
dc.contributor.authorCornes, Belinda
dc.contributor.authorCheng, Ching-Yu
dc.contributor.authorIkram, M. Kamran
dc.contributor.authorKristensen, Vessela
dc.contributor.authorZheng, Wei
dc.contributor.authorHalverson, Sandra L.
dc.contributor.authorShrubsole, Martha
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.authorChanock, Stephen J.
dc.contributor.authorLissowska, Jolanta
dc.contributor.authorCzene, Kamila
dc.contributor.authorKlevebring, Daniel
dc.contributor.authorDarabi, Hatef
dc.contributor.authorEriksson, Mikael
dc.contributor.authorHooning, Maartje J.
dc.contributor.authorHollestelle, Antoinette
dc.contributor.authorMartens, John W.M.
dc.contributor.authorCollée, J. Margriet
dc.contributor.authorHall, Per
dc.contributor.authorLi, Jingmei
dc.contributor.authorHumphreys, Keith
dc.contributor.authorShu, Xiao-Ou
dc.contributor.authorLu, Wei
dc.contributor.authorGao, Yu-Tang
dc.contributor.authorCai, Hui
dc.contributor.authorCox, Angela
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.authorShah, Mitul
dc.contributor.authorGhoussaini, Maya
dc.contributor.authorKang, Daehee
dc.contributor.authorChoi, Ji-Yeob
dc.contributor.authorPark, Sue K.
dc.contributor.authorNoh, Dong-Young
dc.contributor.authorHartman, Mikael
dc.contributor.authorMiao, Hui
dc.contributor.authorLim, Wei Yen
dc.contributor.authorTang, Anthony
dc.contributor.authorHamann, Ute
dc.contributor.authorTorres, Diana
dc.contributor.authorJakubowska, Anna
dc.contributor.authorLubinski, Jan
dc.contributor.authorJaworska, Katarzyna
dc.contributor.authorDurda, Katarzyna
dc.contributor.authorSangrajrang, Suleeporn
dc.contributor.authorGaborieau, Valerie
dc.contributor.authorBrennan, Paul
dc.contributor.authorMcKay, James
dc.contributor.authorOlswold, Curtis
dc.contributor.authorSlager, Susan
dc.contributor.authorToland, Amanda E.
dc.contributor.authorYannoukakos, Drakoulis
dc.contributor.authorShen, Chen-Yang
dc.contributor.authorWu, Pei-Ei
dc.contributor.authorYu, Jyh-Cherng
dc.contributor.authorHou, Ming-Feng
dc.contributor.authorSwerdlow, Anthony
dc.contributor.authorAshworth, Alan
dc.contributor.authorOrr, Nick
dc.contributor.authorJones, Michael
dc.contributor.authorPita, Guillermo
dc.contributor.authorAlonso, M. Rosario
dc.contributor.authorÁlvarez, Nuria
dc.contributor.authorHerrero, Daniel
dc.contributor.authorTessier, Daniel C.
dc.contributor.authorVincent, Daniel
dc.contributor.authorBacot, Francois
dc.contributor.authorLuccarini, Craig
dc.contributor.authorBaynes, Caroline
dc.contributor.authorAhmed, Shahana
dc.contributor.authorHealey, Catherine S.
dc.contributor.authorBrown, Melissa A.
dc.contributor.authorPonder, Bruce A.J.
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorThompson, Deborah J.
dc.contributor.authorEdwards, Stacey L.
dc.contributor.authorEaston, Douglas F.
dc.contributor.authorDunning, Alison M.
dc.contributor.authorFrench, Juliet D.
dc.date.accessioned2018-09-20T16:09:18Z
dc.date.available2018-09-20T16:09:18Z
dc.date.issued2015-01-01
dc.identifier.citationGlubb, Dylan M. Maranian, Mel J.; Michailidou, Kyriaki; Pooley, Karen A.; Meyer, Kerstin B.; Kar, Siddhartha; Carlebur, Saskia; O’Reilly, Martin; Betts, Joshua A.; Hillman, Kristine M.; Kaufmann, Susanne; Beesley, Jonathan; Canisius, Sander; Hopper, John L.; Southey, Melissa C.; Tsimiklis, Helen; Apicella, Carmel; Schmidt, Marjanka K.; Broeks, Annegien; Hogervorst, Frans B.; van der Schoot, C. Ellen; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Fasching, Peter A.; Ruebner, Matthias; Ekici, Arif B.; Beckmann, Matthias W.; Peto, Julian; dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Pharoah, Paul D.P.; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Sawyer, Elinor J.; Tomlinson, Ian; Kerin, Michael J.; Miller, Nicola; Burwinkel, Barbara; Marme, Frederik; Yang, Rongxi; Surowy, Harald; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig E.; Nordestgaard, Børge G.; Nielsen, Sune F.; Flyger, Henrik; González-Neira, Anna; Benitez, Javier; Zamora, M. Pilar; Arias Perez, Jose Ignacio; Anton-Culver, Hoda; Neuhausen, Susan L.; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volker; Stegmaier, Christa; Meindl, Alfons; Schmutzler, Rita K.; Brauch, Hiltrud; Ko, Yon-Dschun; Brüning, Thomas; Nevanlinna, Heli; Muranen, Taru A.; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Tanaka, Hideo; Dörk, Thilo; Bogdanova, Natalia V.; Helbig, Sonja; 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.; Lambrechts, Diether; Zhao, Hui; Weltens, Caroline; van Limbergen, Erik; Chang-Claude, Jenny; Flesch-Janys, Dieter; Rudolph, Anja; Seibold, Petra; Radice, Paolo; Peterlongo, Paolo; Barile, Monica; Capra, Fabio; Couch, Fergus J.; Olson, Janet E.; Hallberg, Emily; Vachon, Celine; 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; See, Mee-Hoong; Cornes, Belinda; Cheng, Ching-Yu; Ikram, M. Kamran; Kristensen, Vessela; Zheng, Wei; Halverson, Sandra L.; Shrubsole, Martha; 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; Chanock, Stephen J.; Lissowska, Jolanta; Czene, Kamila; Klevebring, Daniel; Darabi, Hatef; Eriksson, Mikael; Hooning, Maartje J.; Hollestelle, Antoinette; Martens, John W.M.; Collée, J. Margriet; Hall, Per; Li, Jingmei; Humphreys, Keith; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Cox, Angela; Cross, Simon S.; Reed, Malcolm W.R.; Blot, William; Signorello, Lisa B.; Cai, Qiuyin; Shah, Mitul; Ghoussaini, Maya; Kang, Daehee; Choi, Ji-Yeob; Park, Sue K.; Noh, Dong-Young; Hartman, Mikael; Miao, Hui; Lim, Wei Yen; Tang, Anthony; Hamann, Ute; Torres, Diana; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Olswold, Curtis; Slager, Susan; Toland, Amanda E.; Yannoukakos, Drakoulis; Shen, Chen-Yang; Wu, Pei-Ei; Yu, Jyh-Cherng; Hou, Ming-Feng; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; Pita, Guillermo; Alonso, M. Rosario; Álvarez, Nuria; Herrero, Daniel; Tessier, Daniel C.; Vincent, Daniel; Bacot, Francois; Luccarini, Craig; Baynes, Caroline; Ahmed, Shahana; Healey, Catherine S.; Brown, Melissa A.; Ponder, Bruce A.J.; Chenevix-Trench, Georgia; Thompson, Deborah J.; Edwards, Stacey L.; Easton, Douglas F.; Dunning, Alison M.; French, Juliet D. (2015). Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating map3k1. The American Journal of Human Genetics 96 (1), 5-20
dc.identifier.issn0002-9297
dc.identifier.urihttp://hdl.handle.net/10379/11664
dc.description.abstractGenome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER-: odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, p(trend) = 5.7 3 10(-44)) and estrogen-receptor-negative (ER-: OR = 1.10, 95% CI = 1.05-1.15, p(trend) = 3.0 x 10(-4)) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [p(cond) = 1.61 x 10(-5)]) and five variants composing iCHAV3 (lead rs11949391; ER-: OR = 0.90, 95% CI = 0.87-0.93, p(cond) = 1.4 x 10(-4)). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.
dc.publisherElsevier BV
dc.relation.ispartofThe American Journal of Human Genetics
dc.subjectgenome-wide association
dc.subjectcyclin d1 expression
dc.subjectfunctional variants
dc.subjectsusceptibility loci
dc.subjectgenes
dc.subjectpromoter
dc.subjectactivation
dc.subjectapoptosis
dc.subjectsubtypes
dc.subjecttumors
dc.titleFine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating map3k1
dc.typeArticle
dc.identifier.doi10.1016/j.ajhg.2014.11.009
dc.local.publishedsourcehttps://doi.org/10.1016/j.ajhg.2014.11.009
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