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

Research output: Contribution to journalArticle

35 Citations (Scopus)

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.

Original languageEnglish (US)
Article numbere24987
JournalPLoS One
Volume6
Issue number9
DOIs
StatePublished - Sep 15 2011

Fingerprint

ovarian neoplasms
Polymorphism
breast neoplasms
Single Nucleotide Polymorphism
Nucleotides
promoter regions
genetic polymorphism
Breast Neoplasms
single nucleotide polymorphism
Alleles
alleles
genetic variation
loci
neoplasms
Ovarian epithelial cancer
Neoplasms

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Beesley, J., Pickett, H. A., Johnatty, S. E., Dunning, A. M., Chen, X., Li, J., ... Chenevix-Trench, G. (2011). Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. PLoS One, 6(9), [e24987]. https://doi.org/10.1371/journal.pone.0024987

Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. / 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.; Dörk, 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.; Muir, Kenneth; Lophatananon, Artitaya; Chaiwerawattana, Arkom; Wiangnon, Surapon; Macgregor, Stuart; Easton, Douglas F.; Reddel, Roger R.; Goode, Ellen L; Chenevix-Trench, Georgia.

In: PLoS One, Vol. 6, No. 9, e24987, 15.09.2011.

Research output: Contribution to journalArticle

Beesley, J, Pickett, HA, Johnatty, SE, Dunning, AM, Chen, X, Li, J, Michailidou, K, Lu, Y, Rider, DN, Palmieri, RT, Stutz, MD, 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, IB, Dörk, T, Goodman, MT, Lurie, G, Wilkens, LR, Matsuno, RK, Kiemeney, LA, Aben, KKH, Marees, T, Massuger, LFAG, Fridley, BL, Vierkant, RA, Bandera, EV, Olson, SH, Orlow, I, Rodriguez-Rodriguez, L, Cook, LS, Le, ND, Brooks-Wilson, A, Kelemen, LE, Campbell, I, Gayther, SA, Ramus, SJ, Gentry-Maharaj, A, Menon, U, Ahmed, S, Baynes, C, Pharoah, PD, Muir, K, Lophatananon, A, Chaiwerawattana, A, Wiangnon, S, Macgregor, S, Easton, DF, Reddel, RR, Goode, EL & Chenevix-Trench, G 2011, 'Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers', PLoS One, vol. 6, no. 9, e24987. https://doi.org/10.1371/journal.pone.0024987
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. ; Dörk, 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. ; Muir, Kenneth ; Lophatananon, Artitaya ; Chaiwerawattana, Arkom ; Wiangnon, Surapon ; Macgregor, Stuart ; Easton, Douglas F. ; Reddel, Roger R. ; Goode, Ellen L ; Chenevix-Trench, Georgia. / Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. In: PLoS One. 2011 ; Vol. 6, No. 9.
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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.",
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AU - Palmieri, Rachel T.

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AU - Nickels, Stefan

AU - Vrieling, Alina

AU - Flesch-Janys, Dieter

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AU - Eilber, Ursula

AU - Bogdanova, Natalia

AU - Antonenkova, Natalia

AU - Runnebaum, Ingo B.

AU - Dörk, Thilo

AU - Goodman, Marc T.

AU - Lurie, Galina

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