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Jeffrey Smith
Faculty Member
Last active: 3/14/2018

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

Ye C, Gao YT, Wen W, Breyer JP, Shu XO, Smith JR, Zheng W, Cai Q
Cancer Epidemiol Biomarkers Prev. 2008 17 (8): 2117-22

PMID: 18708405 · PMCID: PMC2643086 · 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) 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.

MeSH Terms (17)

Asian Continental Ancestry Group Breast Neoplasms Case-Control Studies Chi-Square Distribution China Dinucleotide Repeats DNA, Mitochondrial Female Genetic Predisposition to Disease Genotype Humans Logistic Models Middle Aged Polymorphism, Genetic Proportional Hazards Models Risk Survival Analysis

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