2.50
Hdl Handle:
http://hdl.handle.net/2336/50233
Title:
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types
Authors:
Rafnar, Thorunn; Sulem, Patrick; Stacey, Simon N; Geller, Frank; Gudmundsson, Julius; Sigurdsson, Asgeir; Jakobsdottir, Margret; Helgadottir, Hafdis; Thorlacius, Steinunn; Aben, Katja K H; Blöndal, Thorarinn; Thorgeirsson, Thorgeir E; Thorleifsson, Gudmar; Kristjansson, Kristleifur; Thorisdottir, Kristin; Ragnarsson, Rafn; Sigurgeirsson, Bardur; Skuladottir, Halla; Gudbjartsson, Tomas; Isaksson, Helgi J; Einarsson, Gudmundur V; Benediktsdottir, Kristrun R; Agnarsson, Bjarni A; Olafsson, Karl; Salvarsdottir, Anna; Bjarnason, Hjordis; Asgeirsdottir, Margret; Kristinsson, Kari T; Matthiasdottir, Sigurborg; Sveinsdottir, Steinunn G; Polidoro, Silvia; Höiom, Veronica; Botella-Estrada, Rafael; Hemminki, Kari; Rudnai, Peter; Bishop, D Timothy; Campagna, Marcello; Kellen, Eliane; Zeegers, Maurice P; de Verdier, Petra; Ferrer, Ana; Isla, Dolores; Vidal, Maria Jesus; Andres, Raquel; Saez, Berta; Juberias, Pablo; Banzo, Javier; Navarrete, Sebastian; Tres, Alejandro; Kan, Donghui; Lindblom, Annika; Gurzau, Eugene; Koppova, Kvetoslava; de Vegt, Femmie; Schalken, Jack A; van der Heijden, Henricus F M; Smit, Hans J; Termeer, René A; Oosterwijk, Egbert; van Hooij, Onno; Nagore, Eduardo; Porru, Stefano; Steineck, Gunnar; Hansson, Johan; Buntinx, Frank; Catalona, William J; Matullo, Giuseppe; Vineis, Paolo; Kiltie, Anne E; Mayordomo, José I; Kumar, Rajiv; Kiemeney, Lambertus A; Frigge, Michael L; Jonsson, Thorvaldur; Saemundsson, Hafsteinn; Barkardottir, Rosa B; Jonsson, Eirikur; Jonsson, Steinn; Olafsson, Jon H; Gulcher, Jeffrey R; Masson, Gisli; Gudbjartsson, Daniel F; Kong, Augustine; Thorsteinsdottir, Unnur; Stefansson, Kari
Citation:
Nat. Genet. 2009, 41(2):221-7
Issue Date:
1-Feb-2009
Abstract:
The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1038/ng.296

Full metadata record

DC FieldValue Language
dc.contributor.authorRafnar, Thorunn-
dc.contributor.authorSulem, Patrick-
dc.contributor.authorStacey, Simon N-
dc.contributor.authorGeller, Frank-
dc.contributor.authorGudmundsson, Julius-
dc.contributor.authorSigurdsson, Asgeir-
dc.contributor.authorJakobsdottir, Margret-
dc.contributor.authorHelgadottir, Hafdis-
dc.contributor.authorThorlacius, Steinunn-
dc.contributor.authorAben, Katja K H-
dc.contributor.authorBlöndal, Thorarinn-
dc.contributor.authorThorgeirsson, Thorgeir E-
dc.contributor.authorThorleifsson, Gudmar-
dc.contributor.authorKristjansson, Kristleifur-
dc.contributor.authorThorisdottir, Kristin-
dc.contributor.authorRagnarsson, Rafn-
dc.contributor.authorSigurgeirsson, Bardur-
dc.contributor.authorSkuladottir, Halla-
dc.contributor.authorGudbjartsson, Tomas-
dc.contributor.authorIsaksson, Helgi J-
dc.contributor.authorEinarsson, Gudmundur V-
dc.contributor.authorBenediktsdottir, Kristrun R-
dc.contributor.authorAgnarsson, Bjarni A-
dc.contributor.authorOlafsson, Karl-
dc.contributor.authorSalvarsdottir, Anna-
dc.contributor.authorBjarnason, Hjordis-
dc.contributor.authorAsgeirsdottir, Margret-
dc.contributor.authorKristinsson, Kari T-
dc.contributor.authorMatthiasdottir, Sigurborg-
dc.contributor.authorSveinsdottir, Steinunn G-
dc.contributor.authorPolidoro, Silvia-
dc.contributor.authorHöiom, Veronica-
dc.contributor.authorBotella-Estrada, Rafael-
dc.contributor.authorHemminki, Kari-
dc.contributor.authorRudnai, Peter-
dc.contributor.authorBishop, D Timothy-
dc.contributor.authorCampagna, Marcello-
dc.contributor.authorKellen, Eliane-
dc.contributor.authorZeegers, Maurice P-
dc.contributor.authorde Verdier, Petra-
dc.contributor.authorFerrer, Ana-
dc.contributor.authorIsla, Dolores-
dc.contributor.authorVidal, Maria Jesus-
dc.contributor.authorAndres, Raquel-
dc.contributor.authorSaez, Berta-
dc.contributor.authorJuberias, Pablo-
dc.contributor.authorBanzo, Javier-
dc.contributor.authorNavarrete, Sebastian-
dc.contributor.authorTres, Alejandro-
dc.contributor.authorKan, Donghui-
dc.contributor.authorLindblom, Annika-
dc.contributor.authorGurzau, Eugene-
dc.contributor.authorKoppova, Kvetoslava-
dc.contributor.authorde Vegt, Femmie-
dc.contributor.authorSchalken, Jack A-
dc.contributor.authorvan der Heijden, Henricus F M-
dc.contributor.authorSmit, Hans J-
dc.contributor.authorTermeer, René A-
dc.contributor.authorOosterwijk, Egbert-
dc.contributor.authorvan Hooij, Onno-
dc.contributor.authorNagore, Eduardo-
dc.contributor.authorPorru, Stefano-
dc.contributor.authorSteineck, Gunnar-
dc.contributor.authorHansson, Johan-
dc.contributor.authorBuntinx, Frank-
dc.contributor.authorCatalona, William J-
dc.contributor.authorMatullo, Giuseppe-
dc.contributor.authorVineis, Paolo-
dc.contributor.authorKiltie, Anne E-
dc.contributor.authorMayordomo, José I-
dc.contributor.authorKumar, Rajiv-
dc.contributor.authorKiemeney, Lambertus A-
dc.contributor.authorFrigge, Michael L-
dc.contributor.authorJonsson, Thorvaldur-
dc.contributor.authorSaemundsson, Hafsteinn-
dc.contributor.authorBarkardottir, Rosa B-
dc.contributor.authorJonsson, Eirikur-
dc.contributor.authorJonsson, Steinn-
dc.contributor.authorOlafsson, Jon H-
dc.contributor.authorGulcher, Jeffrey R-
dc.contributor.authorMasson, Gisli-
dc.contributor.authorGudbjartsson, Daniel F-
dc.contributor.authorKong, Augustine-
dc.contributor.authorThorsteinsdottir, Unnur-
dc.contributor.authorStefansson, Kari-
dc.date.accessioned2009-02-24T09:27:35Z-
dc.date.available2009-02-24T09:27:35Z-
dc.date.issued2009-02-01-
dc.date.submitted2009-02-24-
dc.identifier.citationNat. Genet. 2009, 41(2):221-7en
dc.identifier.issn1061-4036-
dc.identifier.pmid19151717-
dc.identifier.doi10.1038/ng.296-
dc.identifier.urihttp://hdl.handle.net/2336/50233-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractThe common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene.en
dc.language.isoenen
dc.publisherNature Pub. Co.en
dc.relation.urlhttp://dx.doi.org/10.1038/ng.296en
dc.subject.meshAgeden
dc.subject.meshCarcinoma, Basal Cellen
dc.subject.meshCase-Control Studiesen
dc.subject.meshFemaleen
dc.subject.meshGene Frequencyen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshGenome-Wide Association Studyen
dc.subject.meshHumansen
dc.subject.meshLinkage Disequilibriumen
dc.subject.meshMaleen
dc.subject.meshMembrane Proteinsen
dc.subject.meshMiddle Ageden
dc.subject.meshNeoplasm Proteinsen
dc.subject.meshNeoplasmsen
dc.subject.meshPolymorphism, Single Nucleotideen
dc.subject.meshQuantitative Trait Locien
dc.subject.meshSkin Neoplasmsen
dc.subject.meshTelomeraseen
dc.titleSequence variants at the TERT-CLPTM1L locus associate with many cancer typesen
dc.typeArticleen
dc.identifier.eissn1546-1718-
dc.contributor.departmentdeCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. thorunn.rafnar@decode.isen
dc.identifier.journalNature geneticsen

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