ArticleCarcinogenesis2014
Mutational patterns in the breast cancer mitochondrial genome, with clinical correlates.
Article in Carcinogenesis, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
41 citing papers in PubMed, 69 citations in OpenAlex.
- Mitochondrial DNA mutations and intercellular mitochondrial transfer in cancer: mechanisms, biological effects, and clinical potential.Biomarker research · 2026Review
- Mitochondria and tumorigenesis: Molecular basis and therapeutic implications.Genes & diseases · 2026Review
- Mitogenomic Alterations in Breast Cancer: Identification of Potential Biomarkers of Risk and Prognosis.International journal of molecular sciences · 2025Article
- Understanding the impact of mitochondrial DNA mutations on aging and carcinogenesis (Review).International journal of molecular medicine · 2025Review
- The movement of mitochondria in breast cancer: internal motility and intercellular transfer of mitochondria.Clinical & experimental metastasis · 2024Review
- The mitochondrial stress signaling tunes immunity from a view of systemic tumor microenvironment and ecosystem.iScience · 2024Review
- Review
- The mitochondrial genome as a modifier of autism versus cancer phenotypes inHGG advances · 2023Article
- Phytochemical Targeting of Mitochondria for Breast Cancer Chemoprevention, Therapy, and Sensitization.International journal of molecular sciences · 2022Review
- Quantification of mtDNA content in cultured cells by direct droplet digital PCR.Mitochondrion · 2021Article
- Mitochondrial dysfunction, UPRCell & bioscience · 2021Review
- Mitochondrial Heteroplasmy Shifting as a Potential Biomarker of Cancer Progression.International journal of molecular sciences · 2021Review
- Mitochondrial DNA copy number in human disease: the more the better?FEBS letters · 2021Review
- Review
- Natural and Artificial Mechanisms of Mitochondrial Genome Elimination.Life (Basel, Switzerland) · 2021Review
- Mitochondria Autoimmunity and MNRR1 in Breast Carcinogenesis: A Review.Journal of cancer immunology · 2020Article
- Loss of Mitochondrial Localization of Human FANCG Causes Defective FANCJ Helicase.Molecular and cellular biology · 2020Article
- Mitochondrial DNA Mutation Analysis in Breast Cancer: Shifting From Germline Heteroplasmy Toward Homoplasmy in Tumors.Frontiers in oncology · 2020Article
- Article
- Mitohormesis, UPRCancer research · 2019Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The presence of mitochondrial DNA (mtDNA) mutations in human cancer has long been recognized, but their functional significance has remained obscure. Debate persists as to whether the mutations help drive the tumor, or are bystander events. Here, we analyze next-generation mtDNA sequence data from 99 breast cancer patients. High depth coverage enables detection of even low-level heteroplasmic variants, and data from matched normal tissue allow us to distinguish between shifts in heteroplasmy and acquired mutations. Somatic mtDNA mutations are found in 73 (73.7%) of patient tumors, and dramatic shifts from the initial germline allele proportions are observed for many heteroplasmies. Clustering of somatic mutations in promoter and replication regions, and also in genes coding for electron transport chain complex I, suggest selection for mutations affecting critical mitochondrial processes. Furthermore, statistical tests for Darwinian selection reveal evidence for positive and relaxed negative selection for somatic missense mutations. We also observe a dramatic decrease in per-cell mtDNA content in tumor tissues, as well as a surprising positive correlation between somatic mtDNA mutational burden and patient survival. Taken together, our results support the view that somatic mtDNA mutations are not solely bystander events, but have significance in cancer from both biological and clinical perspectives. We also anticipate that the catalog of heteroplasmies and somatic mutations presented here will serve as a reference for future studies of cancer mitochondrial genomes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.