Mitochondrial DNA Mutations Analysis in Breast, Ovarian and Oral Human Cancers

Abstract

Somatic mutations affecting the mitochondrial DNA (mtDNA) have been frequently observed in human cancers and proposed as important oncological biomarkers. However, the exact mtDNA mutations that is responsible for the pathogenesis of cancer remains unclear. This study aims to identity the somatic mutations shared in breast cancer, ovarian cancer and oral cancer samples from Senegalese patients. We screened the tumor samples from 26 breast cancer, 23 oral cancer, 18 ovarian cancer and 10 healthy controls to detect somatic mutations in D-Loop and MT-CYB regions of mtDNA by direct sequencing. Few mutations were observed in control samples. Pathogenic MT-CYB mutations were observed in oral and ovarian cancers, and many of them in breast cancer. We also show that, while the exact mutation locations differ in each tumorous patient, the global D-Loop mutation profile of ovarian and breast cancers are very similar, but it differs from the one of oral cancer. This might suggest a common pathologic process in ovarian and breast cancers.