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dc.contributor.authorKiemeney, Lambertus A.
dc.contributor.authorSulem, Patrick
dc.contributor.authorBesenbacher, Soren
dc.contributor.authorVermeulen, Sita H.
dc.contributor.authorSigurdsson, Asgeir
dc.contributor.authorThorleifsson, Gudmar
dc.contributor.authorGudbjartsson, Daniel F.
dc.contributor.authorStacey, Simon N.
dc.contributor.authorGudmundsson, Julius
dc.contributor.authorZanon, Carlo
dc.contributor.authorKostic, Jelena
dc.contributor.authorMasson, Gisli
dc.contributor.authorBjarnason, Hjordis
dc.contributor.authorPalsson, Stefan T.
dc.contributor.authorSkarphedinsson, Oskar B.
dc.contributor.authorGudjonsson, Sigurjon A.
dc.contributor.authorWitjes, J. Alfred
dc.contributor.authorGrotenhuis, Anne J.
dc.contributor.authorVerhaegh, Gerald W.
dc.contributor.authorBishop, D. Timothy
dc.contributor.authorSak, Sei Chung
dc.contributor.authorChoudhury, Ananya
dc.contributor.authorElliott, Faye
dc.contributor.authorBarrett, Jennifer H.
dc.contributor.authorHurst, Carolyn D.
dc.contributor.authorde Verdier, Petra J.
dc.contributor.authorRyk, Charlotta
dc.contributor.authorRudnai, Peter
dc.contributor.authorGurzau, Eugene
dc.contributor.authorKoppova, Kvetoslava
dc.contributor.authorVineis, Paolo
dc.contributor.authorPolidoro, Silvia
dc.contributor.authorGuarrera, Simonetta
dc.contributor.authorSacerdote, Carlotta
dc.contributor.authorCampagna, Marcello
dc.contributor.authorPlacidi, Donatella
dc.contributor.authorArici, Cecilia
dc.contributor.authorZeegers, Maurice P.
dc.contributor.authorKellen, Eliane
dc.contributor.authorGutierrez, Berta Saez
dc.contributor.authorSanz-Velez, José I.
dc.contributor.authorSanchez-Zalabardo, Manuel
dc.contributor.authorValdivia, Gabriel
dc.contributor.authorGarcia-Prats, Maria D.
dc.contributor.authorHengstler, Jan G.
dc.contributor.authorBlaszkewicz, Meinolf
dc.contributor.authorDietrich, Holger
dc.contributor.authorOphoff, Roel A.
dc.contributor.authorvan den Berg, Leonard H.
dc.contributor.authorAlexiusdottir, Kristin
dc.contributor.authorKristjansson, Kristleifur
dc.contributor.authorGeirsson, Gudmundur
dc.contributor.authorNikulasson, Sigfus
dc.contributor.authorPetursdottir, Vigdis
dc.contributor.authorKong, Augustine
dc.contributor.authorThorgeirsson, Thorgeir
dc.contributor.authorMungan, N. Aydin
dc.contributor.authorLindblom, Annika
dc.contributor.authorvan Es, Michael A.
dc.contributor.authorPorru, Stefano
dc.contributor.authorBuntinx, Frank
dc.contributor.authorGolka, Klaus
dc.contributor.authorMayordomo, José I.
dc.contributor.authorKumar, Rajiv
dc.contributor.authorMatullo, Giuseppe
dc.contributor.authorSteineck, Gunnar
dc.contributor.authorKiltie, Anne E.
dc.contributor.authorAben, Katja K.H.
dc.contributor.authorJonsson, Eirikur
dc.contributor.authorThorsteinsdottir, Unnur
dc.contributor.authorKnowles, Margaret A.
dc.contributor.authorRafnar, Thorunn
dc.contributor.authorStefansson, Kari
dc.date.accessioned2010-10-18T13:47:07Z
dc.date.available2010-10-18T13:47:07Z
dc.date.issued2010-05
dc.identifier.citationNat. Genet. 2010, 42 (5):415-419en
dc.identifier.issn1546-1718
dc.identifier.pmid20348956
dc.identifier.doi10.1038/ng.558
dc.identifier.urihttp://hdl.handle.net/10146/113399
dc.description.abstractPreviously, we reported germline DNA variants associated with risk of urinary bladder cancer (UBC) in Dutch and Icelandic subjects. Here we expanded the Icelandic sample set and tested the top 20 markers from the combined analysis in several European case-control sample sets, with a total of 4,739 cases and 45,549 controls. The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio = 1.24, P = 9.9 x 10(-12)). rs798766 is located in an intron of TACC3, 70 kb from FGFR3, which often harbors activating somatic mutations in low-grade, noninvasive UBC. Notably, rs798766[T] shows stronger association with low-grade and low-stage UBC than with more aggressive forms of the disease and is associated with higher risk of recurrence in low-grade stage Ta tumors. The frequency of rs798766[T] is higher in Ta tumors that carry an activating mutation in FGFR3 than in Ta tumors with wild-type FGFR3. Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC.
dc.description.sponsorshipThe Torino Bladder Cancer Case Control Study was supported by a grant to ECNIS (Environmental Cancer Risk, Nutrition and Individual Susceptibility), a network of excellence operating within the European Union Sixth Framework Program, Priority 5: ‘Food Quality and Safety’ (Contract No. 513943), and by grants of the Compagnia di San Paolo, of the Italian Association for Cancer Research and of the Piedmont Region Progetti de Ricerca Sanitaria Finalizzata, Italy. The Belgian case-control study on bladder cancer risk was supported by a grant of the Flemish government, the government of the Belgian province of Limburg and the Limburg Cancer Fund.en
dc.language.isoenen
dc.relation.urlhttp://www.nature.com/ng/journal/v42/n5/full/ng.558.htmlen
dc.subjectUrinary Bladder Neoplasmsen
dc.subjectSmokingen
dc.subjectMutationen
dc.subjectHumansen
dc.subjectGenotypeen
dc.subjectAllelesen
dc.subjectDisease-Free Survivalen
dc.subjectEuropeen
dc.subject.meshAlleles
dc.subject.meshChromosomes, Human, Pair 4
dc.subject.meshDisease-Free Survival
dc.subject.meshEurope
dc.subject.meshFemale
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshGenetic Variation
dc.subject.meshGenotype
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshModels, Genetic
dc.subject.meshMutation
dc.subject.meshReceptor, Fibroblast Growth Factor, Type 3
dc.subject.meshRecurrence
dc.subject.meshRisk
dc.subject.meshSmoking
dc.subject.meshUrinary Bladder Neoplasms
dc.titleA sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.en
dc.typeArticleen
dc.identifier.journalNature Geneticsen
html.description.abstractPreviously, we reported germline DNA variants associated with risk of urinary bladder cancer (UBC) in Dutch and Icelandic subjects. Here we expanded the Icelandic sample set and tested the top 20 markers from the combined analysis in several European case-control sample sets, with a total of 4,739 cases and 45,549 controls. The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio = 1.24, P = 9.9 x 10(-12)). rs798766 is located in an intron of TACC3, 70 kb from FGFR3, which often harbors activating somatic mutations in low-grade, noninvasive UBC. Notably, rs798766[T] shows stronger association with low-grade and low-stage UBC than with more aggressive forms of the disease and is associated with higher risk of recurrence in low-grade stage Ta tumors. The frequency of rs798766[T] is higher in Ta tumors that carry an activating mutation in FGFR3 than in Ta tumors with wild-type FGFR3. Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC.


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