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

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

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Breast Neoplasms / genetics*
  • Case-Control Studies
  • Cystadenocarcinoma, Serous / genetics*
  • Female
  • Humans
  • Neoplasms, Glandular and Epithelial / genetics*
  • Ovarian Neoplasms / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Prognosis
  • Telomerase / genetics*

Substances

  • TERT protein, human
  • Telomerase