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Title: Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers
Author(s): Beesley, J.
Pickett, H.A.
Johnatty, S.E.
Dunning, A.M.
Chen, X. (298971879)
Li, J.
Michailidou, K.
Lu, Y.
Rider, D.N.
Palmieri, R.T.
Stutz, M.D.
Lambrechts, D.
Despierre, E.
Lambrechts, S.
Vergote, I.
Chang-Claude, J.
Nickels, S.
Vrieling, A.
Flesch-Janys, D.
Wang-Gohrke, S.
Eilber, U.
Bogdanova, N.
Antonenkova, N.
Runnebaum, I.B.
Dork, T.
Goodman, M.T.
Lurie, G.
Wilkens, L.R.
Matsuno, R.K.
Kiemeney, L.A.L.M. (105132063)
Aben, K.K.H. (217174302)
Marees, T. (329152173)
Massuger, L.F.A.G. (086614665)
Fridley, B.L.
Vierkant, R.A.
Bandera, E.V.
Olson, S.H.
Orlow, I.
Rodriguez-Rodriguez, L.
Cook, L.S.
Le, N.D.
Brooks-Wilson, A.
Kelemen, L.E.
Campbell, I.
Gayther, S.A.
Ramus, S.J.
Gentry-Maharaj, A.
Menon, U.
Ahmed, S.
Baynes, C.
Pharoah, P.D.
Muir, K.
Lophatananon, A.
Chaiwerawattana, A.
Wiangnon, S.
MacGregor, S.
Easton, D.F.
Reddel, R.R.
Goode, E.L.
Chenevix-Trench, G.
Publication year: 2011
Document type: Article / Letter to editor
Journal: PLoS ONE
ISSN: 1932-6203
Volume: vol. 6
Issue: iss. 9
Start page: p. e24987
End page: p. e24987
Annotation: Beesley, Jonathan Pickett, Hilda A Johnatty, Sharon E Dunning, Alison M Chen, Xiaoqing Li, Jun Michailidou, Kyriaki Lu, Yi Rider, David N Palmieri, Rachel T Stutz, Michael D Lambrechts, Diether Despierre, Evelyn Lambrechts, Sandrina Vergote, Ignace Chang-Claude, Jenny Nickels, Stefan Vrieling, Alina Flesch-Janys, Dieter Wang-Gohrke, Shan Eilber, Ursula Bogdanova, Natalia Antonenkova, Natalia Runnebaum, Ingo B Dork, Thilo Goodman, Marc T Lurie, Galina Wilkens, Lynne R Matsuno, Rayna K Kiemeney, Lambertus A Aben, Katja K H Marees, Tamara Massuger, Leon F A G Fridley, Brooke L Vierkant, Robert A Bandera, Elisa V Olson, Sara H Orlow, Irene Rodriguez-Rodriguez, Lorna Cook, Linda S Le, Nhu D Brooks-Wilson, Angela Kelemen, Linda E Campbell, Ian Gayther, Simon A Ramus, Susan J Gentry-Maharaj, Aleksandra Menon, Usha Ahmed, Shahana Baynes, Caroline Pharoah, Paul D kConFab Investigators Australian Ovarian Cancer Study Group ABCTB Investigators Muir, Kenneth Lophatananon, Artitaya Chaiwerawattana,
Abstract: 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.
Subject: NCEBP 1: Molecular epidemiology
NCEBP 1: Molecular epidemiology ONCOL 5: Aetiology, screening and detection
NCMLS 3A: Genetics and epigenetic pathways of disease
ONCOL 1: Hereditary cancer and cancer-related syndromes
ONCOL 3: Translational research
ONCOL 5: Aetiology, screening and detection NCMLS 1B: Immune Regulation
Subject: ONCOL 3: Translational research
Organization: UMCN Extern
Epidemiology, Biostatistics & HTA
Urology
Obstetrics and Gynaecology
Appears in Collections:Academic bibliography

Please use this identifier to cite or link to this item: http://hdl.handle.net/2066/96941

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