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Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers
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 p...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174246/ https://www.ncbi.nlm.nih.gov/pubmed/21949822 http://dx.doi.org/10.1371/journal.pone.0024987 |
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| author | 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. Investigators, kConFab Muir, Kenneth Lophatananon, Artitaya Chaiwerawattana, Arkom Wiangnon, Surapon Macgregor, Stuart Easton, Douglas F. Reddel, Roger R. Goode, Ellen L. Chenevix-Trench, Georgia |
| author_facet | 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. Investigators, kConFab Muir, Kenneth Lophatananon, Artitaya Chaiwerawattana, Arkom Wiangnon, Surapon Macgregor, Stuart Easton, Douglas F. Reddel, Roger R. Goode, Ellen L. Chenevix-Trench, Georgia |
| author_sort | Beesley, Jonathan |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-3174246 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| publisher | Public Library of Science |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-31742462011-09-26 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. Investigators, kConFab Muir, Kenneth Lophatananon, Artitaya Chaiwerawattana, Arkom Wiangnon, Surapon Macgregor, Stuart Easton, Douglas F. Reddel, Roger R. Goode, Ellen L. Chenevix-Trench, Georgia PLoS One Research Article 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. Public Library of Science 2011-09-15 /pmc/articles/PMC3174246/ /pubmed/21949822 http://dx.doi.org/10.1371/journal.pone.0024987 Text en This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. https://creativecommons.org/publicdomain/zero/1.0/ This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration, which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. |
| spellingShingle | Research Article 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. Investigators, kConFab 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 |
| title | Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers |
| title_full | Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers |
| title_fullStr | Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers |
| title_full_unstemmed | Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers |
| title_short | Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers |
| title_sort | functional polymorphisms in the tert promoter are associated with risk of serous epithelial ovarian and breast cancers |
| topic | Research Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174246/ https://www.ncbi.nlm.nih.gov/pubmed/21949822 http://dx.doi.org/10.1371/journal.pone.0024987 |
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