Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk
dc.date.accessioned | 2015-11-10T14:57:37Z | |
dc.date.available | 2015-11-10T14:57:37Z | |
dc.date.created | 2015-09-25T14:17:41Z | |
dc.date.issued | 2015 | |
dc.identifier.citation | Carvajal-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.uri | http://hdl.handle.net/10852/47679 | |
dc.description.abstract | Several 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.language | EN | |
dc.language.iso | en | en_US |
dc.publisher | Springer Verlag | |
dc.title | Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk | en_US |
dc.type | Journal article | en_US |
dc.creator.author | Carvajal-Carmona, Luis G. | |
dc.creator.author | O'Mara, Tracy A. | |
dc.creator.author | Painter, Jodie N. | |
dc.creator.author | Lose, Felicity A. | |
dc.creator.author | Dennis, Joe | |
dc.creator.author | Michailidou, Kyriaki | |
dc.creator.author | Tyrer, Jonathan P | |
dc.creator.author | Ahmed, Shahana | |
dc.creator.author | Ferguson, Kaltin | |
dc.creator.author | Healey, Catherine S. | |
dc.creator.author | Pooley, Karen | |
dc.creator.author | Beesley, Jonathan | |
dc.creator.author | Cheng, Timothy | |
dc.creator.author | Jones, Angela | |
dc.creator.author | Howarth, Kimberley | |
dc.creator.author | Martin, Lynn | |
dc.creator.author | Gorman, Maggie | |
dc.creator.author | Hodgson, Shirley | |
dc.creator.author | Wentzensen, Nicholas | |
dc.creator.author | Fasching, Peter A. | |
dc.creator.author | Hein, Alexander | |
dc.creator.author | Beckmann, Matthias W. | |
dc.creator.author | Renner, Stefan P. | |
dc.creator.author | Dörk, Thilo | |
dc.creator.author | Hillemanns, Peter | |
dc.creator.author | Durst, Matthias | |
dc.creator.author | Runnebaum, Ingo | |
dc.creator.author | Lambrechts, Dieter | |
dc.creator.author | Coenegrachts, Lieve | |
dc.creator.author | Schrauwen, Stefanie | |
dc.creator.author | Amant, Frederic | |
dc.creator.author | Winterhoff, Boris | |
dc.creator.author | Dowdy, Sean C. | |
dc.creator.author | Goode, Ellen L. | |
dc.creator.author | Teoman, Attila | |
dc.creator.author | Salvesen, Helga | |
dc.creator.author | Trovik, Jone | |
dc.creator.author | Njølstad, Tormund Salvesen | |
dc.creator.author | Werner, Henrica Maria Johanna | |
dc.creator.author | Scott, Rodney J. | |
dc.creator.author | Ashton, Katie | |
dc.creator.author | Proietto, Tony | |
dc.creator.author | Otton, Geoffrey | |
dc.creator.author | Wersäll, Ofra | |
dc.creator.author | Mints, Miriam | |
dc.creator.author | Tham, Emma | |
dc.creator.author | Hall, Per | |
dc.creator.author | Czene, Kamila | |
dc.creator.author | Liu, Jianjun | |
dc.creator.author | Li, Jingmei | |
dc.creator.author | Hopper, John L. | |
dc.creator.author | Southey, Melissa C. | |
dc.creator.author | Ekici, Arif B. | |
dc.creator.author | Ruebner, Matthias | |
dc.creator.author | Johnson, Nichola | |
dc.creator.author | Peto, Julian | |
dc.creator.author | Burwinkel, Barbara | |
dc.creator.author | Marme, Frederik | |
dc.creator.author | Brenner, Hermann | |
dc.creator.author | Dieffenbach, Aida Karina | |
dc.creator.author | Meindl, Alfons | |
dc.creator.author | Brauch, Hiltrud | |
dc.creator.author | Lindblom, Annika | |
dc.creator.author | Depreeuw, Jeroen | |
dc.creator.author | Moisse, Matthieu | |
dc.creator.author | Chang-Claude, Jenny | |
dc.creator.author | Rudolph, Anja | |
dc.creator.author | Couch, Fergus J. | |
dc.creator.author | Olson, Janet E. | |
dc.creator.author | Giles, Graham G. | |
dc.creator.author | Bruinsma, Fiona | |
dc.creator.author | Cunningham, Julie M. | |
dc.creator.author | Fridley, Brooke L. | |
dc.creator.author | Børresen-Dale, Anne-Lise | |
dc.creator.author | Kristensen, Vessela N. | |
dc.creator.author | Cox, Angela | |
dc.creator.author | Swerdlow, Anthony J. | |
dc.creator.author | Orr, Nicholas | |
dc.creator.author | Bolla, Manjeet K. | |
dc.creator.author | Wang, Qin | |
dc.creator.author | Weber, Rachel Palmieri | |
dc.creator.author | Chen, Zhihua | |
dc.creator.author | Shah, Mitul | |
dc.creator.author | Pharoah, Paul D.P. | |
dc.creator.author | Dunning, Alison M. | |
dc.creator.author | Tomlinson, Ian | |
dc.creator.author | Easton, Douglas F. | |
dc.creator.author | Spurdle, Amanda B. | |
dc.creator.author | Thompson, Deborah J. | |
cristin.unitcode | 185,53,19,70 | |
cristin.unitname | K.G.Jebsen senter for brystkreftforskning - part UiO | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |
dc.identifier.cristin | 1275369 | |
dc.identifier.bibliographiccitation | info: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.jtitle | Human Genetics | |
dc.identifier.volume | 134 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 231 | |
dc.identifier.endpage | 245 | |
dc.identifier.doi | http://dx.doi.org/10.1007/s00439-014-1515-4 | |
dc.identifier.urn | URN:NBN:no-51700 | |
dc.subject.nvi | VDP::Medisinsk genetikk: 714 | |
dc.type.document | Tidsskriftartikkel | en_US |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 0340-6717 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/47679/2/s00439-014-1515-4.pdf | |
dc.type.version | PublishedVersion |
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