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

Ferdowsi Akter¹, SM Hasan Israfil², Mohammad Shawkat Ali³, A. S. Shamsur Rouf⁴, Mohammad Sahajadul Alam⁵, Mohammad Shafiqur Rahman⁶ and Gazi Nurun Nahar Sultana^7,

¹Department of Pharmacy, East West University, Dhaka, Bangladesh

²Department of Pharmacy, State University of Bangladesh, Dhaka, Bangladesh

³Department of Clinical Pharmacy and Pharmacology, University of Dhaka, Dhaka, Bangladesh

⁴Department of Pharmaceutical Technology, University of Dhaka, Dhaka, Bangladesh

⁵Department of Surgical Oncology, National Institute of Cancer Research and Hospital, Dhaka, Bangladesh

⁶Institute of Statistical Research and Training, University of Dhaka, Dhaka, Bangladesh

⁷Centre for Advanced Research in Sciences, University of Dhaka, Dhaka, Bangladesh

Cite this paper:
Ferdowsi Akter, SM Hasan Israfil, Mohammad Shawkat Ali, A. S. Shamsur Rouf, Mohammad Sahajadul Alam, Mohammad Shafiqur Rahman and Gazi Nurun Nahar Sultana. Rapid Screening of Blood Mitochondrial D310 and D315 Mutations in Breast Cancer Patients. Journal of Cancer Research and Treatment. 2020; 8(1):1-6. doi: 10.12691/jcrt-8-1-1

Abstract

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.

Keywords:
mtDNA D310 Poly C stretch breast cancer

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