Mitochondrial DNA Mutations Analysis in Breast, Ovarian and Oral Human Cancers
Fatimata Mbaye and Mbacké Sembene
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.
