Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers

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-GohrkeUrsula 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, Kenneth Muir, Artitaya Lophatananon, Arkom Chaiwerawattana, Surapon Wiangnon, Stuart Macgregor, Douglas F. Easton, Roger R. Reddel, Ellen L. Goode, Georgia Chenevix-Trench

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40 Scopus citations


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.

Original languageEnglish (US)
Article numbere24987
JournalPloS one
Issue number9
StatePublished - Sep 15 2011

ASJC Scopus subject areas

  • General


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