Rapid Screening of Blood Mitochondrial D310 and D315 Mutations in Breast Cancer Patients

Aims: 'Poly C' stretch extending from 303 to 315 nucleotide positions known as (D310) by GeneBank within the non-coding region HVR-II of mitochondrial DNA (mtDNA) has been identified as a mutational hotspot of primary cancer. We aimed to find this mutation in Bangladeshi breast cancer patients and control samples for screening the changes in poly C stretches. Materials and Methods: We have analyzed a total of 98 breast cancer blood samples and 98 healthy control blood samples and extracted DNA from blood samples for direct sequencing using ABI®3130 Genetic Analyzer. Results: We observed 70.41% C insertion at 310 regions (P<0.001, OR = 16.30 and 95% CI=7.83-33.93) in breast cancer patient whereas it is present only in 12.24% healthy individuals. No alterations were observed in 29.59% breast cancer samples. We also check the mutation pattern at D315 regions, but no significant observation was found (P=1.00). Conclusions: This is the first study from Bangladeshi breast cancer (BC) patients indicating a relatively high frequency of D310 mutations, which suggests that mtDNA instability at D310 may be a common characteristic of BC, study also supports the hypothesis that mtDNA D310 screening may represent additional blood based biomarker for breast cancer prognosis.