Genetic variation in five genes important in telomere biology and risk for breast cancer

S. A. Savage, S. J. Chanock, J. Lissowska, L. A. Brinton, D. Richesson, B. Peplonska, A. Bardin-Mikolajczak, W. Zatonski, N. Szeszenia-Da̧browska, M. Garcia-Closas

Research output: Contribution to journalArticlepeer-review

67 Scopus citations


Telomeres, consisting of TTAGGG nucleotide repeats and a protein complex at chromosome ends, are critical for maintaining chromosomal stability. Genomic instability, following telomere crisis, may contribute to breast cancer pathogenesis. Many genes critical in telomere biology have limited nucleotide diversity, thus, single nucleotide polymorphisms (SNPs) in this pathway could contribute to breast cancer risk. In a population-based study of 1995 breast cancer cases and 2296 controls from Poland, 24 SNPs representing common variation in POT1, TEP1, TERF1, TERF2 and TERT were genotyped. We did not identify any significant associations between individual SNPs or haplotypes and breast cancer risk; however, data suggested that three correlated SNPs in TERT (-1381C>T, -244C>T, and Ex2-659G>A) may be associated with reduced risk of breast cancer among individuals with a family history of breast cancer (odds ratios 0.73, 0.66, and 0.57, 95% confidence intervals 0.53-1.00, 0.46-0.95 and 0.39-0.84, respectively). In conclusion, our data do not support substantial overall associations between SNPs in telomere pathway genes and breast cancer risk. Intriguing associations with variants in TERT among women with a family history of breast cancer warrant follow-up in independent studies.

Original languageEnglish (US)
Pages (from-to)832-836
Number of pages5
JournalBritish journal of cancer
Issue number6
StatePublished - Sep 11 2007
Externally publishedYes


  • Breast cancer
  • Haplotype
  • Single nucleotide polymorphism
  • TERF2
  • TERT
  • Telomere

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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