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- Title
Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers.
- Authors
Beesley, Jonathan; Pickett, Hilda A.; Johnatty, Sharon E.; Dunning, Alison M.; Xiaoqing Chen; Jun Li; Kyriaki Michailidou; Yi Lu; 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
- 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.
- Subjects
TELOMERASE reverse transcriptase; GENETIC polymorphisms; PROMOTERS (Genetics); EPITHELIUM; OVARIAN cancer; BREAST cancer; SINGLE nucleotide polymorphisms; ALLELES
- Publication
PLoS ONE, 2011, Vol 6, Issue 9, p1
- ISSN
1932-6203
- Publication type
Article
- DOI
10.1371/journal.pone.0024987