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Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers

Author

Listed:
  • 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
  • on behalf of the Ovarian Cancer Association Consortium

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.

Suggested Citation

  • 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 Lambrec, 2011. "Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers," PLOS ONE, Public Library of Science, vol. 6(9), pages 1-6, September.
  • Handle: RePEc:plo:pone00:0024987
    DOI: 10.1371/journal.pone.0024987
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    1. Sharon E Johnatty & Jonathan Beesley & Xiaoqing Chen & Stuart Macgregor & David L Duffy & Amanda B Spurdle & Anna deFazio & Natalie Gava & Penelope M Webb & Australian Ovarian Cancer Study Group & Aus, 2010. "Evaluation of Candidate Stromal Epithelial Cross-Talk Genes Identifies Association between Risk of Serous Ovarian Cancer and TERT, a Cancer Susceptibility “Hot-Spot”," PLOS Genetics, Public Library of Science, vol. 6(7), pages 1-10, July.
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