Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study

Background/Objectives: Triple-negative breast cancer (TNBC) is a highly aggressive subtype with limited therapeutic options, and identifying reliable biomarkers for diagnosis and prognosis is crucial for improving patient outcomes. Mitochondrial DNA (mtDNA) copy number has been linked to an increase...

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Main Authors: Karin Manto, Sevdican Ustun Yilmaz, Zeliha Pala Kara, Halil Kara, Fatma Tokat, Cemaliye B. Akyerli, Cihan Uras, Meltem Muftuoglu, Ugur Özbek
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Diseases
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Online Access:https://www.mdpi.com/2079-9721/13/6/175
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author Karin Manto
Sevdican Ustun Yilmaz
Zeliha Pala Kara
Halil Kara
Fatma Tokat
Cemaliye B. Akyerli
Cihan Uras
Meltem Muftuoglu
Ugur Özbek
author_facet Karin Manto
Sevdican Ustun Yilmaz
Zeliha Pala Kara
Halil Kara
Fatma Tokat
Cemaliye B. Akyerli
Cihan Uras
Meltem Muftuoglu
Ugur Özbek
author_sort Karin Manto
collection DOAJ
description Background/Objectives: Triple-negative breast cancer (TNBC) is a highly aggressive subtype with limited therapeutic options, and identifying reliable biomarkers for diagnosis and prognosis is crucial for improving patient outcomes. Mitochondrial DNA (mtDNA) copy number has been linked to an increased risk of developing various types of cancer, including breast cancer. However, there is a lack of understanding regarding how mtDNA copy number variations may influence the development and progression of TNBC. Methods: This study investigated mtDNA copy number in TNBC tumors and corresponding normal breast tissues from 23 TNBC patients who received neoadjuvant chemotherapy. The relative mtDNA copy number was estimated using quantitative PCR for the NADH dehydrogenase subunit 1 (ND1) and subunit 5 (ND5) regions. Results: The results showed a significant decrease in mtDNA copy number in TNBC tumor tissues compared to corresponding normal breast tissue. However, no significant correlation was found between mtDNA content and clinical parameters such as age, tumor size, or chemotherapy response. Conclusions: These results suggest that while mtDNA content decreases in TNBC tumors, it may not directly influence these clinical characteristics. Despite some inconsistencies in the literature regarding mtDNA dynamics in cancer, this study supports the potential of mtDNA as a biomarker for TNBC. Larger cohort studies are needed to further validate these results and explore the role of mtDNA in guiding personalized treatment strategies for TNBC patients.
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spelling doaj-art-b97be34c870e47e2969fb4dc6b8507d62025-08-20T03:27:06ZengMDPI AGDiseases2079-97212025-06-0113617510.3390/diseases13060175Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker StudyKarin Manto0Sevdican Ustun Yilmaz1Zeliha Pala Kara2Halil Kara3Fatma Tokat4Cemaliye B. Akyerli5Cihan Uras6Meltem Muftuoglu7Ugur Özbek8Department of Genome Studies, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Atasehir, 34638 Istanbul, TurkeyDepartment of Medical Biotechnology, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Atasehir, 34638 Istanbul, TurkeyDepartment of Pharmacology, Faculty of Pharmacy, Istanbul University, Beyazit, 34452 Istanbul, TurkeyDepartment of General Surgery, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Atasehir, 34638 Istanbul, TurkeyDepartment of Pathology, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Atasehir, 34638 Istanbul, TurkeyDepartment of Medical Biolgoy, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Atasehir, 34638 Istanbul, TurkeyDepartment of General Surgery, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Atasehir, 34638 Istanbul, TurkeyDepartment of Medical Biotechnology, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Atasehir, 34638 Istanbul, TurkeyDepartment of Genome Studies, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Atasehir, 34638 Istanbul, TurkeyBackground/Objectives: Triple-negative breast cancer (TNBC) is a highly aggressive subtype with limited therapeutic options, and identifying reliable biomarkers for diagnosis and prognosis is crucial for improving patient outcomes. Mitochondrial DNA (mtDNA) copy number has been linked to an increased risk of developing various types of cancer, including breast cancer. However, there is a lack of understanding regarding how mtDNA copy number variations may influence the development and progression of TNBC. Methods: This study investigated mtDNA copy number in TNBC tumors and corresponding normal breast tissues from 23 TNBC patients who received neoadjuvant chemotherapy. The relative mtDNA copy number was estimated using quantitative PCR for the NADH dehydrogenase subunit 1 (ND1) and subunit 5 (ND5) regions. Results: The results showed a significant decrease in mtDNA copy number in TNBC tumor tissues compared to corresponding normal breast tissue. However, no significant correlation was found between mtDNA content and clinical parameters such as age, tumor size, or chemotherapy response. Conclusions: These results suggest that while mtDNA content decreases in TNBC tumors, it may not directly influence these clinical characteristics. Despite some inconsistencies in the literature regarding mtDNA dynamics in cancer, this study supports the potential of mtDNA as a biomarker for TNBC. Larger cohort studies are needed to further validate these results and explore the role of mtDNA in guiding personalized treatment strategies for TNBC patients.https://www.mdpi.com/2079-9721/13/6/175mtDNATNBCbiomarkerscopy number variationqPCRneoadjuvant chemotherapy
spellingShingle Karin Manto
Sevdican Ustun Yilmaz
Zeliha Pala Kara
Halil Kara
Fatma Tokat
Cemaliye B. Akyerli
Cihan Uras
Meltem Muftuoglu
Ugur Özbek
Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study
Diseases
mtDNA
TNBC
biomarkers
copy number variation
qPCR
neoadjuvant chemotherapy
title Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study
title_full Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study
title_fullStr Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study
title_full_unstemmed Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study
title_short Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study
title_sort association of mitochondrial dna copy number variations with triple negative breast cancer a potential biomarker study
topic mtDNA
TNBC
biomarkers
copy number variation
qPCR
neoadjuvant chemotherapy
url https://www.mdpi.com/2079-9721/13/6/175
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