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PLoS One. 2011;6(9):e24987. doi: 10.1371/journal.pone.0024987. Epub 2011 Sep 15.

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

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  • 1Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia. jonathan.beesley@qimr.edu.au

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.

PMID:
21949822
[PubMed - indexed for MEDLINE]
PMCID:
PMC3174246
Free PMC Article
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