Next Article in Journal
Probiotics: A Little Help for Enteral Nutritional Therapy in Critically Ill Adults
Previous Article in Journal
DNA Methylation in Rice: Mechanisms, Regulatory Roles, and Beyond
Previous Article in Special Issue
Profiling the Expression Level of a Gene from the Caspase Family in Triple-Negative Breast Cancer
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
IJMS
Volume 26
Issue 17
10.3390/ijms26178456
ijms-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

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

by
Carlos Jhovani Pérez-Amado
1,
Amellalli Bazan-Cordoba
1,2,
Laura Gómez-Romero
3,4,
Julian Ramírez-Bello
5,
Verónica Bautista-Piña
6,
Alberto Tenorio-Torres
6,
Eva Ruvalcaba-Limón
6,
Felipe Villegas-Carlos
6,
Diana Karen Mendiola-Soto
1,7,
Alfredo Hidalgo-Miranda
8 and
Silvia Jiménez-Morales
1,*
1
Laboratorio de Innovación y Medicina de Precisión Núcleo “A”, Instituto Nacional de Medicina Genómica, Mexico City 14610, Mexico
2
Programa de Maestría y Doctorado, Posgrado en Ciencias Bioquímicas, Universidad Nacional Autónoma de México, Mexico City 04510, Mexico
3
Subdirección de Bioinformática, Instituto Nacional de Medicina Genómica, Mexico City 14610, Mexico
4
School of Medicine and Health Sciences, Tecnológico de Monterrey, Mexico City 14380, Mexico
5
Subdirección de Investigación Clínica, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City 14080, Mexico
6
Fundación de Cáncer de Mama, FUCAM, Mexico City 04980, Mexico
7
Programa de Doctorado en Ciencias Biomédicas, Universidad Nacional Autónoma de México, Mexico City 04510, Mexico
8
Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Mexico City 14610, Mexico
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2025, 26(17), 8456; https://doi.org/10.3390/ijms26178456 (registering DOI)
Submission received: 8 July 2025 / Revised: 13 August 2025 / Accepted: 27 August 2025 / Published: 30 August 2025
(This article belongs to the Special Issue Molecular Genetics of Breast Cancer—Recent Progress)
Versions Notes

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 mtDNA content, than controls. Notably, a high blood mtDNA mutational burden (OR = 3.83, CI: 1.89–7.95, p = 5.3 × 10−5) and five mtDNA variants showed association with the risk of breast cancer. Furthermore, a low tumor mutational burden (HR = 7.82, CI: 1.0–63.6, p = 0.05) and the haplogroup L (HR = 12.16, CI: 2.0–72.8, p = 0.0062) were associated with decreased overall and disease-free survival, respectively. Our study adds evidence of the potential usefulness of mtDNA variants as risk and prognosis biomarkers for breast cancer.
Keywords: breast cancer; case-control study; heteroplasmy; haplogroups; mitochondrial DNA; mtDNA mutations; mtDNA biomarkers breast cancer; case-control study; heteroplasmy; haplogroups; mitochondrial DNA; mtDNA mutations; mtDNA biomarkers

Share and Cite

MDPI and ACS Style

Pérez-Amado, C.J.; Bazan-Cordoba, A.; Gómez-Romero, L.; Ramírez-Bello, J.; Bautista-Piña, V.; Tenorio-Torres, A.; Ruvalcaba-Limón, E.; Villegas-Carlos, F.; Mendiola-Soto, D.K.; Hidalgo-Miranda, A.; et al. Mitogenomic Alterations in Breast Cancer: Identification of Potential Biomarkers of Risk and Prognosis. Int. J. Mol. Sci. 2025, 26, 8456. https://doi.org/10.3390/ijms26178456

AMA Style

Pérez-Amado CJ, Bazan-Cordoba A, Gómez-Romero L, Ramírez-Bello J, Bautista-Piña V, Tenorio-Torres A, Ruvalcaba-Limón E, Villegas-Carlos F, Mendiola-Soto DK, Hidalgo-Miranda A, et al. Mitogenomic Alterations in Breast Cancer: Identification of Potential Biomarkers of Risk and Prognosis. International Journal of Molecular Sciences. 2025; 26(17):8456. https://doi.org/10.3390/ijms26178456

Chicago/Turabian Style

Pérez-Amado, Carlos Jhovani, Amellalli Bazan-Cordoba, Laura Gómez-Romero, Julian Ramírez-Bello, Verónica Bautista-Piña, Alberto Tenorio-Torres, Eva Ruvalcaba-Limón, Felipe Villegas-Carlos, Diana Karen Mendiola-Soto, Alfredo Hidalgo-Miranda, and et al. 2025. "Mitogenomic Alterations in Breast Cancer: Identification of Potential Biomarkers of Risk and Prognosis" International Journal of Molecular Sciences 26, no. 17: 8456. https://doi.org/10.3390/ijms26178456

APA Style

Pérez-Amado, C. J., Bazan-Cordoba, A., Gómez-Romero, L., Ramírez-Bello, J., Bautista-Piña, V., Tenorio-Torres, A., Ruvalcaba-Limón, E., Villegas-Carlos, F., Mendiola-Soto, D. K., Hidalgo-Miranda, A., & Jiménez-Morales, S. (2025). Mitogenomic Alterations in Breast Cancer: Identification of Potential Biomarkers of Risk and Prognosis. International Journal of Molecular Sciences, 26(17), 8456. https://doi.org/10.3390/ijms26178456

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop