title: Association of mitochondrial DNA displacement loop (CA)n dinucleotide repeat polymorphism with breast cancer risk and survival among Chinese women.
abstract: 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) dinucleotide 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 1998. 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.
authors: Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine and Vanderbilt Ingram-Cancer Center, Nashville, TN 37232-2400, USA.
authors: Chuanzhong
authors: C
authors: Ye
authors: Yu-Tang
authors: YT
authors: Gao
authors: Wanqing
authors: W
authors: Wen
authors: Joan P
authors: JP
authors: Breyer
authors: Xiao Ou
authors: XO
authors: Shu
authors: Jeffrey R
authors: JR
authors: Smith
authors: Wei
authors: W
authors: Zheng
authors: Qiuyin
authors: Q
authors: Cai
mesh_terms: D044466:Asian People / Q000235:genetics; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D004272:DNA, Mitochondrial / Q000235:genetics*; D018900:Dinucleotide Repeats / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008875:Middle Aged; D011110:Polymorphism, Genetic; D016016:Proportional Hazards Models; D012306:Risk; D016019:Survival Analysis
chemical_list: D004272:DNA, Mitochondrial