Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers.
Genetic variation at the TERT-CLPTM1L locus at 5p15.33 is associated with susceptibility to several cancers, including epithelial ovarian cancer (EOC). We have carried out fine-mapping of this region in EOC which implicates an association with a single nucleotide polymorphism (SNP) within the TERT p...
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Public Library of Science (PLoS)
2011
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oai:doaj.org-article:2e5ecea3b7d34d4a95a0b58cc1df48d32021-11-04T06:08:26ZFunctional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers.1932-620310.1371/journal.pone.0024987https://doaj.org/article/2e5ecea3b7d34d4a95a0b58cc1df48d32011-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21949822/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Genetic variation at the TERT-CLPTM1L locus at 5p15.33 is associated with susceptibility to several cancers, including epithelial ovarian cancer (EOC). We have carried out fine-mapping of this region in EOC which implicates an association with a single nucleotide polymorphism (SNP) within the TERT promoter. We demonstrate that the minor alleles at rs2736109, and at an additional TERT promoter SNP, rs2736108, are associated with decreased breast cancer risk, and that the combination of both SNPs substantially reduces TERT promoter activity.Jonathan BeesleyHilda A PickettSharon E JohnattyAlison M DunningXiaoqing ChenJun LiKyriaki MichailidouYi LuDavid N RiderRachel T PalmieriMichael D StutzDiether LambrechtsEvelyn DespierreSandrina LambrechtsIgnace VergoteJenny Chang-ClaudeStefan NickelsAlina VrielingDieter Flesch-JanysShan Wang-GohrkeUrsula EilberNatalia BogdanovaNatalia AntonenkovaIngo B RunnebaumThilo DörkMarc T GoodmanGalina LurieLynne R WilkensRayna K MatsunoLambertus A KiemeneyKatja K H AbenTamara MareesLeon F A G MassugerBrooke L FridleyRobert A VierkantElisa V BanderaSara H OlsonIrene OrlowLorna Rodriguez-RodriguezLinda S CookNhu D LeAngela Brooks-WilsonLinda E KelemenIan CampbellSimon A GaytherSusan J RamusAleksandra Gentry-MaharajUsha MenonShahana AhmedCaroline BaynesPaul D PharoahkConFab InvestigatorsAustralian Ovarian Cancer Study GroupABCTB InvestigatorsKenneth MuirArtitaya LophatananonArkom ChaiwerawattanaSurapon WiangnonStuart MacgregorDouglas F EastonRoger R ReddelEllen L GoodeGeorgia Chenevix-TrenchOvarian Cancer Association ConsortiumPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 9, p e24987 (2011) |
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DOAJ |
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DOAJ |
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EN |
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Medicine R Science Q |
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Medicine R Science Q Jonathan Beesley Hilda A Pickett Sharon E Johnatty Alison M Dunning Xiaoqing Chen Jun Li Kyriaki Michailidou Yi Lu David N Rider Rachel T Palmieri Michael D Stutz Diether Lambrechts Evelyn Despierre Sandrina Lambrechts Ignace Vergote Jenny Chang-Claude Stefan Nickels Alina Vrieling Dieter Flesch-Janys Shan Wang-Gohrke Ursula Eilber Natalia Bogdanova Natalia Antonenkova Ingo B Runnebaum Thilo Dörk Marc T Goodman Galina Lurie Lynne R Wilkens Rayna K Matsuno Lambertus A Kiemeney Katja K H Aben Tamara Marees Leon F A G Massuger Brooke L Fridley Robert A Vierkant Elisa V Bandera Sara H Olson Irene Orlow Lorna Rodriguez-Rodriguez Linda S Cook Nhu D Le Angela Brooks-Wilson Linda E Kelemen Ian Campbell Simon A Gayther Susan J Ramus Aleksandra Gentry-Maharaj Usha Menon Shahana Ahmed Caroline Baynes Paul D Pharoah kConFab Investigators Australian Ovarian Cancer Study Group ABCTB Investigators Kenneth Muir Artitaya Lophatananon Arkom Chaiwerawattana Surapon Wiangnon Stuart Macgregor Douglas F Easton Roger R Reddel Ellen L Goode Georgia Chenevix-Trench Ovarian Cancer Association Consortium Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. |
| description |
Genetic variation at the TERT-CLPTM1L locus at 5p15.33 is associated with susceptibility to several cancers, including epithelial ovarian cancer (EOC). We have carried out fine-mapping of this region in EOC which implicates an association with a single nucleotide polymorphism (SNP) within the TERT promoter. We demonstrate that the minor alleles at rs2736109, and at an additional TERT promoter SNP, rs2736108, are associated with decreased breast cancer risk, and that the combination of both SNPs substantially reduces TERT promoter activity. |
| format |
article |
| author |
Jonathan Beesley Hilda A Pickett Sharon E Johnatty Alison M Dunning Xiaoqing Chen Jun Li Kyriaki Michailidou Yi Lu David N Rider Rachel T Palmieri Michael D Stutz Diether Lambrechts Evelyn Despierre Sandrina Lambrechts Ignace Vergote Jenny Chang-Claude Stefan Nickels Alina Vrieling Dieter Flesch-Janys Shan Wang-Gohrke Ursula Eilber Natalia Bogdanova Natalia Antonenkova Ingo B Runnebaum Thilo Dörk Marc T Goodman Galina Lurie Lynne R Wilkens Rayna K Matsuno Lambertus A Kiemeney Katja K H Aben Tamara Marees Leon F A G Massuger Brooke L Fridley Robert A Vierkant Elisa V Bandera Sara H Olson Irene Orlow Lorna Rodriguez-Rodriguez Linda S Cook Nhu D Le Angela Brooks-Wilson Linda E Kelemen Ian Campbell Simon A Gayther Susan J Ramus Aleksandra Gentry-Maharaj Usha Menon Shahana Ahmed Caroline Baynes Paul D Pharoah kConFab Investigators Australian Ovarian Cancer Study Group ABCTB Investigators Kenneth Muir Artitaya Lophatananon Arkom Chaiwerawattana Surapon Wiangnon Stuart Macgregor Douglas F Easton Roger R Reddel Ellen L Goode Georgia Chenevix-Trench Ovarian Cancer Association Consortium |
| author_facet |
Jonathan Beesley Hilda A Pickett Sharon E Johnatty Alison M Dunning Xiaoqing Chen Jun Li Kyriaki Michailidou Yi Lu David N Rider Rachel T Palmieri Michael D Stutz Diether Lambrechts Evelyn Despierre Sandrina Lambrechts Ignace Vergote Jenny Chang-Claude Stefan Nickels Alina Vrieling Dieter Flesch-Janys Shan Wang-Gohrke Ursula Eilber Natalia Bogdanova Natalia Antonenkova Ingo B Runnebaum Thilo Dörk Marc T Goodman Galina Lurie Lynne R Wilkens Rayna K Matsuno Lambertus A Kiemeney Katja K H Aben Tamara Marees Leon F A G Massuger Brooke L Fridley Robert A Vierkant Elisa V Bandera Sara H Olson Irene Orlow Lorna Rodriguez-Rodriguez Linda S Cook Nhu D Le Angela Brooks-Wilson Linda E Kelemen Ian Campbell Simon A Gayther Susan J Ramus Aleksandra Gentry-Maharaj Usha Menon Shahana Ahmed Caroline Baynes Paul D Pharoah kConFab Investigators Australian Ovarian Cancer Study Group ABCTB Investigators Kenneth Muir Artitaya Lophatananon Arkom Chaiwerawattana Surapon Wiangnon Stuart Macgregor Douglas F Easton Roger R Reddel Ellen L Goode Georgia Chenevix-Trench Ovarian Cancer Association Consortium |
| author_sort |
Jonathan Beesley |
| title |
Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. |
| title_short |
Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. |
| title_full |
Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. |
| title_fullStr |
Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. |
| title_full_unstemmed |
Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. |
| title_sort |
functional polymorphisms in the tert promoter are associated with risk of serous epithelial ovarian and breast cancers. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2011 |
| url |
https://doaj.org/article/2e5ecea3b7d34d4a95a0b58cc1df48d3 |
| work_keys_str_mv |
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