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Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers
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Australian Ovarian Cancer Study Group, Peter MacCallum Hospital (Melbourne, Vic.). Cancer Institute, Ovarian Cancer Association (Including:
). (2011) Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. PLoS ONE, Vol.6 (No.9). doi:10.1371/journal.pone.0024987 ISSN 1932-6203.![]()
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WRAP_Muir_Functional_Polymorphisms.pdf - Published Version Download (302Kb) |
Official URL: http://dx.doi.org/10.1371/journal.pone.0024987
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.
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