Unraveling the genetic connections for mitochondrial DNA control region and breast cancer susceptibility
Abstract Breast cancer, a complex global health concern, has predominantly been studied for nuclear DNA variations. However, the role of mitochondrial DNA (mtDNA) haplogroups in breast cancer susceptibility, especially in Pakistan, remains underexplored. This case-control study investigates the asso...
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2025-02-01
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| Series: | Scientific Reports |
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| Online Access: | https://doi.org/10.1038/s41598-025-89115-9 |
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| author | Namra Khalid Muhammad Umer Khan Raima Rehman Shamsa Kanwal Tazeen Zahid Muhammad Usman Ghani Ayesha Iftikhar Qurban Ali Muhammad Arshad Javed |
| author_facet | Namra Khalid Muhammad Umer Khan Raima Rehman Shamsa Kanwal Tazeen Zahid Muhammad Usman Ghani Ayesha Iftikhar Qurban Ali Muhammad Arshad Javed |
| author_sort | Namra Khalid |
| collection | DOAJ |
| description | Abstract Breast cancer, a complex global health concern, has predominantly been studied for nuclear DNA variations. However, the role of mitochondrial DNA (mtDNA) haplogroups in breast cancer susceptibility, especially in Pakistan, remains underexplored. This case-control study investigates the association between mtDNA haplogroups and breast cancer in Pakistan. The study reveals a significant abundance of haplogroup M in breast cancer cases by analyzing breast cancer patients and healthy controls through mitochondrial control region genome sequencing (p < 0.001). Increased frequencies of haplogroups M, H, and R in patients compared to controls suggest their potential role in breast cancer susceptibility. Triple-Negative Breast Cancer (TNBC) cases are also linked to haplogroup M, showing a statistically significant association with a p-value of 0.002. This suggests a potential meaningful association between haplogroup M and the occurrence of TNBC in the studied population. These findings emphasize the importance of mitochondrial genetics in breast cancer risk among the Pakistani population, offering insights for biomarker discovery and targeted interventions. Recognizing mitochondrial genetics in breast cancer risk assessment holds promise for tailored medicine strategies and may impact global breast cancer research and prevention efforts. |
| format | Article |
| id | doaj-art-7ead722337304f9abdf7aac33b10395a |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj-art-7ead722337304f9abdf7aac33b10395a2025-02-09T12:31:14ZengNature PortfolioScientific Reports2045-23222025-02-0115111610.1038/s41598-025-89115-9Unraveling the genetic connections for mitochondrial DNA control region and breast cancer susceptibilityNamra Khalid0Muhammad Umer Khan1Raima Rehman2Shamsa Kanwal3Tazeen Zahid4Muhammad Usman Ghani5Ayesha Iftikhar6Qurban Ali7Muhammad Arshad Javed8Institute of Molecular Biology and Biotechnology, The University of LahoreInstitute of Molecular Biology and Biotechnology, The University of LahoreCentre of Excellence in Molecular Biology, University of the PunjabMuhammad Ali Jinnah University KarachiInstitute of Molecular Biology and Biotechnology, The University of LahorePrecision Genomics Research Lab, Centre for Applied Molecular Biology, University of the PunjabLahore Business School, The University of LahoreDepartment of Plant Breeding and Genetics, Faculty of Agricultural Sciences, The University of LahoreDepartment of Plant Breeding and Genetics, Faculty of Agricultural Sciences, The University of LahoreAbstract Breast cancer, a complex global health concern, has predominantly been studied for nuclear DNA variations. However, the role of mitochondrial DNA (mtDNA) haplogroups in breast cancer susceptibility, especially in Pakistan, remains underexplored. This case-control study investigates the association between mtDNA haplogroups and breast cancer in Pakistan. The study reveals a significant abundance of haplogroup M in breast cancer cases by analyzing breast cancer patients and healthy controls through mitochondrial control region genome sequencing (p < 0.001). Increased frequencies of haplogroups M, H, and R in patients compared to controls suggest their potential role in breast cancer susceptibility. Triple-Negative Breast Cancer (TNBC) cases are also linked to haplogroup M, showing a statistically significant association with a p-value of 0.002. This suggests a potential meaningful association between haplogroup M and the occurrence of TNBC in the studied population. These findings emphasize the importance of mitochondrial genetics in breast cancer risk among the Pakistani population, offering insights for biomarker discovery and targeted interventions. Recognizing mitochondrial genetics in breast cancer risk assessment holds promise for tailored medicine strategies and may impact global breast cancer research and prevention efforts.https://doi.org/10.1038/s41598-025-89115-9Breast cancerMitochondrial DNAVariantsHaplogroupsSequencing |
| spellingShingle | Namra Khalid Muhammad Umer Khan Raima Rehman Shamsa Kanwal Tazeen Zahid Muhammad Usman Ghani Ayesha Iftikhar Qurban Ali Muhammad Arshad Javed Unraveling the genetic connections for mitochondrial DNA control region and breast cancer susceptibility Scientific Reports Breast cancer Mitochondrial DNA Variants Haplogroups Sequencing |
| title | Unraveling the genetic connections for mitochondrial DNA control region and breast cancer susceptibility |
| title_full | Unraveling the genetic connections for mitochondrial DNA control region and breast cancer susceptibility |
| title_fullStr | Unraveling the genetic connections for mitochondrial DNA control region and breast cancer susceptibility |
| title_full_unstemmed | Unraveling the genetic connections for mitochondrial DNA control region and breast cancer susceptibility |
| title_short | Unraveling the genetic connections for mitochondrial DNA control region and breast cancer susceptibility |
| title_sort | unraveling the genetic connections for mitochondrial dna control region and breast cancer susceptibility |
| topic | Breast cancer Mitochondrial DNA Variants Haplogroups Sequencing |
| url | https://doi.org/10.1038/s41598-025-89115-9 |
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