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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
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
Descripción
Sumario: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.

Ejemplares similares