Mitogenomic Alterations in Breast Cancer: Identification of Potential Biomarkers of Risk and Prognosis.

ABSTRACT: Alterations in the mitochondrial genome (mtDNA) have been shown to be key in cancer development and could be useful as biomarkers for diagnosis, prognosis, and treatment. To identify mtDNA variants associated with breast cancer, we analyzed the whole mtDNA sequence from paired tissues (tumor-peripheral blood) of women with this malignancy and from peripheral blood samples of healthy women. The mtDNA mutational landscape, heteroplasmy levels of the variants, and mitochondrial ancestry were established. Comparative analysis between cases and controls revealed significant differences in the number and location of variants, as well as in the heteroplasmy levels. Cases showed higher mutation number in MT-ND5, tRNAs, and rRNAs genes; increased proportion of missense variants; and elevated

SUBMITTER: Perez-Amado CJ 

PROVIDER: S-EPMC12428619 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature