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

摘要: 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 in biology have limited diversity, thus, single polymorphisms (SNPs) this pathway could risk. In population-based study 1995 cases 2296 controls from Poland, 24 SNPs representing common variation POT1, TEP1, TERF1, TERF2 TERT were genotyped. We did not identify any significant associations between individual or haplotypes risk; however, data suggested that three correlated (−1381C>T, −244C>T, Ex2-659G>A) be associated with reduced risk among individuals family history (odds ratios 0.73, 0.66, 0.57, 95% confidence intervals 0.53–1.00, 0.46–0.95 0.39–0.84, respectively). conclusion, our do support substantial overall Intriguing variants women warrant follow-up independent studies.