Abstract

Breast cancer (BC) is the most common cancer among women and accounts for the highest mortality rates in the developing countries, including Vietnam. D-loop, is a non-coding region in mitochondrialcircular DNA molecules, related to control the replication and transcription of mitochondrial genes. D-loop mutations cause the dysfunction of the respiratory chain, which contributes to the process of BC. SNP rs3937033 (T/C) on D-loop was reported to have the association with BC in Europe America population (OR [95%CI]= 1.98 [1.25–3.12], P=0.036), and Caucasian (OR[95%CI]= 21 [2.15–204.6], P=0.003). In this study, the High Resolution Melting (HRM) method is optimized for genotyping 100/100 cases/controls samples, then to determine the association between the disease and this SNP. TT, TC and CC genotype frequencies in patient group (36 %, 3 % and 61 %) and control group (23 %, 1 % and 76 %) were calculated based on the results of genotyping by optimal HRM method with the annealing temperature is 66 0C. Association analysis result showed that T allele increases the risk of breast cancer patients up to 1.41 times (OR [95% CI] = 1.41 [1.3-1.92], Pallele = 0.03). Therefore, SNP rs3937033 could be a potential biomarker for early BC diagnosis in Vietnamese. However, this research needs to be conducted with a larger sample size to reach the greater confidence.