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

被引：50

作者：

Beesley, Jonathan ^{[1
]}

Pickett, Hilda A. ^{[2
,3
]}

Johnatty, Sharon E. ^{[1
]}

Dunning, Alison M. ^{[4
]}

Chen, Xiaoqing ^{[1
]}

Li, Jun ^{[1
]}

Michailidou, Kyriaki ^{[4
]}

Lu, Yi ^{[1
]}

Rider, David N. ^{[5
]}

Palmieri, Rachel T. ^{[6
]}

Stutz, Michael D. ^{[2
,3
]}

Lambrechts, Diether ^{[7
,8
]}

Despierre, Evelyn ^{[9
]}

Lambrechts, Sandrina ^{[9
]}

Vergote, Ignace ^{[9
]}

Chang-Claude, Jenny ^{[10
]}

Nickels, Stefan ^{[10
]}

Vrieling, Alina ^{[10
]}

Flesch-Janys, Dieter ^{[11
]}

Wang-Gohrke, Shan ^{[12
]}

Eilber, Ursula ^{[10
]}

Bogdanova, Natalia ^{[13
,14
,15
,16
]}

Antonenkova, Natalia ^{[15
]}

Runnebaum, Ingo B. ^{[17
,18
]}

Doerk, Thilo ^{[13
,14
]}

Goodman, Marc T. ^{[19
]}

Lurie, Galina ^{[19
]}

Wilkens, Lynne R. ^{[19
]}

Matsuno, Rayna K. ^{[19
]}

Kiemeney, Lambertus A. ^{[20
,21
,22
]}

Aben, Katja K. H. ^{[20
,22
]}

Marees, Tamara ^{[20
]}

Massuger, Leon F. A. G. ^{[23
]}

Fridley, Brooke L. ^{[5
]}

Vierkant, Robert A. ^{[5
]}

Bandera, Elisa V. ^{[24
]}

Olson, Sara H. ^{[25
]}

Orlow, Irene ^{[25
]}

Rodriguez-Rodriguez, Lorna ^{[24
]}

Cook, Linda S. ^{[26
]}

Le, Nhu D. ^{[26
]}

Brooks-Wilson, Angela ^{[26
]}

Kelemen, Linda E. ^{[26
]}

Campbell, Ian ^{[27
]}

Gayther, Simon A. ^{[28
]}

Ramus, Susan J. ^{[28
]}

Gentry-Maharaj, Aleksandra ^{[29
]}

Menon, Usha ^{[29
]}

Ahmed, Shahana ^{[4
]}

Baynes, Caroline ^{[4
]}

机构：

[1] Queensland Inst Med Res, Div Genet & Populat Hlth, Brisbane, Qld 4006, Australia

[2] Childrens Med Res Inst, Canc Res Unit, Westmead, NSW, Australia

[3] Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia

[4] Univ Cambridge, Strangeways Res Lab, Dept Oncol, Cambridge, England

[5] Mayo Clin, Coll Med, Dept Hlth Sci Res, Rochester, MN USA

[6] Duke Univ, Med Ctr, Dept Community & Family Med, Durham, NC 27710 USA

[7] VIB, Vesalius Res Ctr, Louvain, Belgium

[8] Univ Leuven, Vesalius Res Ctr, Louvain, Belgium

[9] Univ Leuven, Univ Hosp Leuven, Dept Obstet & Gynaecol, Div Gynaecol Oncol, Louvain, Belgium

[10] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany

[11] Univ Clin Hamburg Eppendorf, Inst Med Biometr & Epidemiol, Hamburg, Germany

[12] Univ Ulm, Dept Obstet & Gynecol, Ulm, Germany

[13] Hannover Med Sch, Clin Obstet, D-3000 Hannover, Germany

[14] Hannover Med Sch, Clin Gynaecol, D-3000 Hannover, Germany

[15] Byelorussian Inst Oncol & Med Radiol Aleksandrov, Minsk, BELARUS

[16] Hannover Med Sch, Clin Radiat Oncol, D-3000 Hannover, Germany

[17] Univ Jena, Clin Obstet, Jena, Germany

[18] Univ Jena, Clin Gynaecol, Jena, Germany

[19] Univ Hawaii, Ctr Canc, Canc Epidemiol Program, Honolulu, HI 96822 USA

[20] Radboud Univ Nijmegen, Med Ctr, Dept Epidemiol Biostat & HTA, NL-6525 ED Nijmegen, Netherlands

[21] Radboud Univ Nijmegen, Med Ctr, Dept Urol, NL-6525 ED Nijmegen, Netherlands

[22] Ctr Comprehens Canc, Nijmegen, Netherlands

[23] Radboud Univ Nijmegen, Med Ctr, Dept Gynaecol, NL-6525 ED Nijmegen, Netherlands

[24] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Canc Inst New Jersey, New Brunswick, NJ USA

[25] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10021 USA

[26] Alberta Hlth Serv Canc Care, Dept Populat Hlth Res, Calgary, AB, Canada

[27] Peter MacCallum Canc Ctr, Melbourne, Vic, Australia

[28] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[29] UCL, EGA Inst Womens Hlth, Dept Gynaecol Oncol, London, England

[30] Univ Sydney, Westmead Hosp, Westmead Millennium Inst, Westmead Inst Canc Res, Sydney, NSW 2006, Australia

[31] Univ Warwick, Warwick Med Sch, Hlth Sci Res Inst, Coventry CV4 7AL, W Midlands, England

[32] Minist Publ Hlth, Natl Canc Inst Thailand, Dept Acad Support, Nonthaburi, Thailand

[33] Khon Kaen Univ, Sch Med, Dept Pediat, Khon Kaen, Thailand

来源：

PLOS ONE | 2011年 / 6卷 / 09期

基金：

英国医学研究理事会; 澳大利亚国家健康与医学研究理事会; 美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; IDENTIFIES; 5; VARIANTS; 19P13; SNPS;

D O I：

10.1371/journal.pone.0024987

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

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