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dc.date.accessioned2015-11-10T14:57:37Z
dc.date.available2015-11-10T14:57:37Z
dc.date.created2015-09-25T14:17:41Z
dc.date.issued2015
dc.identifier.citationCarvajal-Carmona, Luis G. O'Mara, Tracy A. Painter, Jodie N. Lose, Felicity A. Dennis, Joe Michailidou, Kyriaki Tyrer, Jonathan P Ahmed, Shahana Ferguson, Kaltin Healey, Catherine S. Pooley, Karen Beesley, Jonathan Cheng, Timothy Jones, Angela Howarth, Kimberley Martin, Lynn Gorman, Maggie Hodgson, Shirley Wentzensen, Nicholas Fasching, Peter A. Hein, Alexander Beckmann, Matthias W. Renner, Stefan P. Dörk, Thilo Hillemanns, Peter Durst, Matthias Runnebaum, Ingo Lambrechts, Dieter Coenegrachts, Lieve Schrauwen, Stefanie Amant, Frederic Winterhoff, Boris Dowdy, Sean C. Goode, Ellen L. Teoman, Attila Salvesen, Helga Trovik, Jone Njølstad, Tormund Salvesen Werner, Henrica Maria Johanna Scott, Rodney J. Ashton, Katie Proietto, Tony Otton, Geoffrey Wersäll, Ofra Mints, Miriam Tham, Emma Hall, Per Czene, Kamila Liu, Jianjun Li, Jingmei Hopper, John L. Southey, Melissa C. Ekici, Arif B. Ruebner, Matthias Johnson, Nichola Peto, Julian Burwinkel, Barbara Marme, Frederik Brenner, Hermann Dieffenbach, Aida Karina Meindl, Alfons Brauch, Hiltrud Lindblom, Annika Depreeuw, Jeroen Moisse, Matthieu Chang-Claude, Jenny Rudolph, Anja Couch, Fergus J. Olson, Janet E. Giles, Graham G. Bruinsma, Fiona Cunningham, Julie M. Fridley, Brooke L. Børresen-Dale, Anne-Lise Kristensen, Vessela N. Cox, Angela Swerdlow, Anthony J. Orr, Nicholas Bolla, Manjeet K. Wang, Qin Weber, Rachel Palmieri Chen, Zhihua Shah, Mitul Pharoah, Paul D.P. Dunning, Alison M. Tomlinson, Ian Easton, Douglas F. Spurdle, Amanda B. Thompson, Deborah J. . Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Human Genetics. 2015, 134(2), 231-245
dc.identifier.urihttp://hdl.handle.net/10852/47679
dc.description.abstractSeveral studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with endometrial cancer. To evaluate the role of genetic variants at the TERT–CLPTM1L region in endometrial cancer risk, we carried out comprehensive fine-mapping analyses of genotyped and imputed SNPs using a custom Illumina iSelect array which includes dense SNP coverage of this region. We examined 396 SNPs (113 genotyped, 283 imputed) in 4,401 endometrial cancer cases and 28,758 controls. Single-SNP and forward/backward logistic regression models suggested evidence for three variants independently associated with endometrial cancer risk (P = 4.9 × 10−6 to P = 7.7 × 10−5). Only one falls into a haplotype previously associated with other cancer types (rs7705526, in TERT intron 1), and this SNP has been shown to alter TERT promoter activity. One of the novel associations (rs13174814) maps to a second region in the TERT promoter and the other (rs62329728) is in the promoter region of CLPTM1L; neither are correlated with previously reported cancer-associated SNPs. Using TCGA RNASeq data, we found significantly increased expression of both TERT and CLPTM1L in endometrial cancer tissue compared with normal tissue (TERT P = 1.5 × 10−18, CLPTM1L P = 1.5 × 10−19). Our study thus reports a novel endometrial cancer risk locus and expands the spectrum of cancer types associated with This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.en_US
dc.languageEN
dc.language.isoenen_US
dc.publisherSpringer Verlag
dc.titleCandidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risken_US
dc.typeJournal articleen_US
dc.creator.authorCarvajal-Carmona, Luis G.
dc.creator.authorO'Mara, Tracy A.
dc.creator.authorPainter, Jodie N.
dc.creator.authorLose, Felicity A.
dc.creator.authorDennis, Joe
dc.creator.authorMichailidou, Kyriaki
dc.creator.authorTyrer, Jonathan P
dc.creator.authorAhmed, Shahana
dc.creator.authorFerguson, Kaltin
dc.creator.authorHealey, Catherine S.
dc.creator.authorPooley, Karen
dc.creator.authorBeesley, Jonathan
dc.creator.authorCheng, Timothy
dc.creator.authorJones, Angela
dc.creator.authorHowarth, Kimberley
dc.creator.authorMartin, Lynn
dc.creator.authorGorman, Maggie
dc.creator.authorHodgson, Shirley
dc.creator.authorWentzensen, Nicholas
dc.creator.authorFasching, Peter A.
dc.creator.authorHein, Alexander
dc.creator.authorBeckmann, Matthias W.
dc.creator.authorRenner, Stefan P.
dc.creator.authorDörk, Thilo
dc.creator.authorHillemanns, Peter
dc.creator.authorDurst, Matthias
dc.creator.authorRunnebaum, Ingo
dc.creator.authorLambrechts, Dieter
dc.creator.authorCoenegrachts, Lieve
dc.creator.authorSchrauwen, Stefanie
dc.creator.authorAmant, Frederic
dc.creator.authorWinterhoff, Boris
dc.creator.authorDowdy, Sean C.
dc.creator.authorGoode, Ellen L.
dc.creator.authorTeoman, Attila
dc.creator.authorSalvesen, Helga
dc.creator.authorTrovik, Jone
dc.creator.authorNjølstad, Tormund Salvesen
dc.creator.authorWerner, Henrica Maria Johanna
dc.creator.authorScott, Rodney J.
dc.creator.authorAshton, Katie
dc.creator.authorProietto, Tony
dc.creator.authorOtton, Geoffrey
dc.creator.authorWersäll, Ofra
dc.creator.authorMints, Miriam
dc.creator.authorTham, Emma
dc.creator.authorHall, Per
dc.creator.authorCzene, Kamila
dc.creator.authorLiu, Jianjun
dc.creator.authorLi, Jingmei
dc.creator.authorHopper, John L.
dc.creator.authorSouthey, Melissa C.
dc.creator.authorEkici, Arif B.
dc.creator.authorRuebner, Matthias
dc.creator.authorJohnson, Nichola
dc.creator.authorPeto, Julian
dc.creator.authorBurwinkel, Barbara
dc.creator.authorMarme, Frederik
dc.creator.authorBrenner, Hermann
dc.creator.authorDieffenbach, Aida Karina
dc.creator.authorMeindl, Alfons
dc.creator.authorBrauch, Hiltrud
dc.creator.authorLindblom, Annika
dc.creator.authorDepreeuw, Jeroen
dc.creator.authorMoisse, Matthieu
dc.creator.authorChang-Claude, Jenny
dc.creator.authorRudolph, Anja
dc.creator.authorCouch, Fergus J.
dc.creator.authorOlson, Janet E.
dc.creator.authorGiles, Graham G.
dc.creator.authorBruinsma, Fiona
dc.creator.authorCunningham, Julie M.
dc.creator.authorFridley, Brooke L.
dc.creator.authorBørresen-Dale, Anne-Lise
dc.creator.authorKristensen, Vessela N.
dc.creator.authorCox, Angela
dc.creator.authorSwerdlow, Anthony J.
dc.creator.authorOrr, Nicholas
dc.creator.authorBolla, Manjeet K.
dc.creator.authorWang, Qin
dc.creator.authorWeber, Rachel Palmieri
dc.creator.authorChen, Zhihua
dc.creator.authorShah, Mitul
dc.creator.authorPharoah, Paul D.P.
dc.creator.authorDunning, Alison M.
dc.creator.authorTomlinson, Ian
dc.creator.authorEaston, Douglas F.
dc.creator.authorSpurdle, Amanda B.
dc.creator.authorThompson, Deborah J.
cristin.unitcode185,53,19,70
cristin.unitnameK.G.Jebsen senter for brystkreftforskning - part UiO
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode1
dc.identifier.cristin1275369
dc.identifier.bibliographiccitationinfo:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Human Genetics&rft.volume=134&rft.spage=231&rft.date=2015
dc.identifier.jtitleHuman Genetics
dc.identifier.volume134
dc.identifier.issue2
dc.identifier.startpage231
dc.identifier.endpage245
dc.identifier.doihttp://dx.doi.org/10.1007/s00439-014-1515-4
dc.identifier.urnURN:NBN:no-51700
dc.subject.nviVDP::Medisinsk genetikk: 714
dc.type.documentTidsskriftartikkelen_US
dc.type.peerreviewedPeer reviewed
dc.source.issn0340-6717
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/47679/2/s00439-014-1515-4.pdf
dc.type.versionPublishedVersion


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