Mitochondrial DNA copy number variation, leukocyte telomere length, and breast cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC) study

摘要: Leukocyte telomere length (LTL) and mitochondrial genome (mtDNA) copy number deletions have been proposed as risk markers for various cancer types, including breast (BC). To gain a more comprehensive picture on how these can modulate BC risk, alone or in conjunction, we performed simultaneous measurements of LTL mtDNA up to 570 cases 538 controls from the European Prospective Investigation into Cancer Nutrition (EPIC) cohort. As first step, measured 96 individuals which blood sample had collected twice with an interval 15 years. According intraclass correlation (ICC), found very good stability over time period both measurements, ICCs 0.63 0.60 number. In analysis entire study sample, observed that longer was strongly associated increased (OR 2.71, 95% CI 1.58–4.65, p = 3.07 × 10− 4 highest vs. lowest quartile; OR 3.20, 1.57–6.55, 1.41 10− 3 continuous variable). We did not find any association between risk; however, when considering only functional copies, developing estrogen receptor-positive 2.47, 1.05–5.80, 0.04 quartile). confirm role carcinogenesis suggest effect risk.