Association of mitochondrial DNA displacement loop (CA)(n) dinucleotide repeat polymorphism with breast cancer risk and survival among Chinese women

作者：Ye Chuanzhong; Gao Yu Tang; Wen Wanqing; Breyer Joan P; Shu Xiao Ou; Smith Jeffrey R; Zheng Wei; Cail Qiuyin^*

来源：Cancer Epidemiology Biomarkers & Prevention, 2008, 17(8): 2117-2122.

DOI：10.1158/1055-9965.EPI-07-2798

Mitochondrial genome alternations may be involved in carcinogenesis. The noncoding region of the mitochondrial DNA (mtDNA) displacement loop (D-loop) has emerged as a mutational hotspot. Using data from a population-based case-control study conducted among Chinese women in Shanghai, we evaluated associations of breast cancer risk and survival with the mtDNA D-loop (CA)(n) dinucleoticle repeat polymorphism. Included in the study were 1,058 cases and 1,129 age frequency-matched community controls that participated in the Shanghai Breast Cancer Study between 1996 and 1.998. Breast cancer patients were followed to determine intervals of overall survival and disease-free survival. Overall, there was no association between the mtDNA D-loop(CA)(n) repeat polymorphism and breast cancer risk. Patients with multiple alleles of the mtDNA D-loop (CA)(n) polymorphism (heteroplasmy) had significantly poorer disease-free survival than those with one allele of the mtDNA D-loop (CA)(n) polymorphism (hazard ratio 1.62; 95% confidence interval, 1.16-2.26). These results suggest that the mtDNA D-loop (CA)(n) repeat polymorphism may be associated with breast cancer survival. Additional studies with a larger sample size are warranted.

• 出版日期2008-8
• 单位上海市肿瘤研究所