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

doi:10.1371/journal.pone.0024987

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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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 language	English (US)
Article number	e24987
Journal	PloS one
Volume	6
Issue number	9
DOIs	https://doi.org/10.1371/journal.pone.0024987
State	Published - Sep 15 2011
Externally published	Yes

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Beesley, J., Pickett, H. A., Johnatty, S. E., Dunning, A. M., Chen, X., 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., ... 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), Article e24987. https://doi.org/10.1371/journal.pone.0024987

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

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

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.",

author = "Jonathan Beesley and Pickett, {Hilda A.} and Johnatty, {Sharon E.} and Dunning, {Alison M.} and Xiaoqing Chen and Jun Li and Kyriaki Michailidou and Yi Lu and Rider, {David N.} and Palmieri, {Rachel T.} and Stutz, {Michael D.} and Diether Lambrechts and Evelyn Despierre and Sandrina Lambrechts and Ignace Vergote and Jenny Chang-Claude and Stefan Nickels and Alina Vrieling and Dieter Flesch-Janys and Shan Wang-Gohrke and Ursula Eilber and Natalia Bogdanova and Natalia Antonenkova and Runnebaum, {Ingo B.} and Thilo D{\"o}rk and Goodman, {Marc T.} and Galina Lurie and Wilkens, {Lynne R.} and Matsuno, {Rayna K.} and Kiemeney, {Lambertus A.} and Aben, {Katja K.H.} and Tamara Marees and Massuger, {Leon F.A.G.} and Fridley, {Brooke L.} and Vierkant, {Robert A.} and Bandera, {Elisa V.} and Olson, {Sara H.} and Irene Orlow and Lorna Rodriguez-Rodriguez and Cook, {Linda S.} and Le, {Nhu D.} and Angela Brooks-Wilson and Kelemen, {Linda E.} and Ian Campbell and Gayther, {Simon A.} and Ramus, {Susan J.} and Aleksandra Gentry-Maharaj and Usha Menon and Shahana Ahmed and Caroline Baynes and Pharoah, {Paul D.} and Kenneth Muir and Artitaya Lophatananon and Arkom Chaiwerawattana and Surapon Wiangnon and Stuart Macgregor and Easton, {Douglas F.} and Reddel, {Roger R.} and Goode, {Ellen L.} and Georgia Chenevix-Trench",

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AU - Beesley, Jonathan

AU - Pickett, Hilda A.

AU - Johnatty, Sharon E.

AU - Dunning, Alison M.

AU - Chen, Xiaoqing

AU - Li, Jun

AU - Michailidou, Kyriaki

AU - Lu, Yi

AU - Rider, David N.

AU - Palmieri, Rachel T.

AU - Stutz, Michael D.

AU - Lambrechts, Diether

AU - Despierre, Evelyn

AU - Lambrechts, Sandrina

AU - Vergote, Ignace

AU - Chang-Claude, Jenny

AU - Nickels, Stefan

AU - Vrieling, Alina

AU - Flesch-Janys, Dieter

AU - Wang-Gohrke, Shan

AU - Eilber, Ursula

AU - Bogdanova, Natalia

AU - Antonenkova, Natalia

AU - Runnebaum, Ingo B.

AU - Dörk, Thilo

AU - Goodman, Marc T.

AU - Lurie, Galina

AU - Wilkens, Lynne R.

AU - Matsuno, Rayna K.

AU - Kiemeney, Lambertus A.

AU - Aben, Katja K.H.

AU - Marees, Tamara

AU - Massuger, Leon F.A.G.

AU - Fridley, Brooke L.

AU - Vierkant, Robert A.

AU - Bandera, Elisa V.

AU - Olson, Sara H.

AU - Orlow, Irene

AU - Rodriguez-Rodriguez, Lorna

AU - Cook, Linda S.

AU - Le, Nhu D.

AU - Brooks-Wilson, Angela

AU - Kelemen, Linda E.

AU - Campbell, Ian

AU - Gayther, Simon A.

AU - Ramus, Susan J.

AU - Gentry-Maharaj, Aleksandra

AU - Menon, Usha

AU - Ahmed, Shahana

AU - Baynes, Caroline

AU - Pharoah, Paul D.

AU - Muir, Kenneth

AU - Lophatananon, Artitaya

AU - Chaiwerawattana, Arkom

AU - Wiangnon, Surapon

AU - Macgregor, Stuart

AU - Easton, Douglas F.

AU - Reddel, Roger R.

AU - Goode, Ellen L.

AU - Chenevix-Trench, Georgia

PY - 2011/9/15

Y1 - 2011/9/15

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AB - 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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AN - SCOPUS:80052846746

SN - 1932-6203

VL - 6

JO - PloS one

JF - PloS one

IS - 9

M1 - e24987

ER -

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

Abstract

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