ArticleNeoplasia (New York, N.Y.)2018
Tumor-Specific Mitochondrial DNA Variants Are Rarely Detected in Cell-Free DNA.
Article in Neoplasia (New York, N.Y.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 39 citations in OpenAlex.
- Comparative analysis of nuclear and mitochondrial DNA from tissue and liquid biopsies of colorectal cancer patients.Scientific reports · 2021Trial
- Mitochondrial DNA mutations and intercellular mitochondrial transfer in cancer: mechanisms, biological effects, and clinical potential.Biomarker research · 2026Review
- Targeting Regulatory Noncoding RNAs in Human Cancer: The State of the Art in Clinical Trials.Pharmaceutics · 2025Review
- Circulating cell-free mitochondrial DNA for diagnosing hepatocellular carcinoma and assessing prognosis: Editorial on "Aberrant fragmentomic features of circulating cell-free mitochondrial DNA enable early detection and prognosis prediction of hepatocellular carcinoma".Clinical and molecular hepatology · 2025Article
- Aberrant fragmentomic features of circulating cell-free mitochondrial DNA enable early detection and prognosis prediction of hepatocellular carcinoma.Clinical and molecular hepatology · 2025Article
- Aberrant fragmentomic features of circulating cell-free mitochondrial DNA as novel biomarkers for multi-cancer detection.EMBO molecular medicine · 2024Article
- Mitochondrial DNA Sensing Pathogen Recognition Receptors in Systemic Sclerosis Associated Interstitial Lung Disease: A Review.Current treatment options in rheumatology · 2023Article
- Circulating cell-free mtDNA as a new biomarker for cancer detection and management.Cancer biology & medicine · 2023Article
- Roles of MT-ND1 in Cancer.Current medical science · 2023Review
- Evaluation of Mitochondrial Function in Blood Samples Shows Distinct Patterns in Subjects with Thyroid Carcinoma from Those with Hyperplasia.International journal of molecular sciences · 2023Article
- Targeted parallel DNA sequencing detects circulating tumor-associated variants of the mitochondrial and nuclear genomes in patients with neuroblastoma.Cancer reports (Hoboken, N.J.) · 2023Article
- A hitchhiker's guide to cell-free DNA biology.Neuro-oncology advances · 2022Article
- Novel Markers for Liquid Biopsies in Cancer Management: Circulating Platelets and Extracellular Vesicles.Molecular cancer therapeutics · 2022Review
- Quantitative detection of circulating MT-ND1 as a potential biomarker for colorectal cancer.Bosnian journal of basic medical sciences · 2021Article
- Mitochondrial Heteroplasmy Shifting as a Potential Biomarker of Cancer Progression.International journal of molecular sciences · 2021Review
- Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.Genes · 2021Article
- NGS-based accurate and efficient detection of circulating cell-free mitochondrial DNA in cancer patients.Molecular therapy. Nucleic acids · 2021Article
- Circulating Cell-Free DNA in Breast Cancer: Searching for Hidden Information towards Precision Medicine.Cancers · 2021Review
- Application of Data Science in Circulating Tumor DNA Detection: A Promising Avenue Towards Liquid Biopsy.Frontiers in oncology · 2021Review
- Pathophysiological mechanisms explaining poor clinical outcome of older cancer patients with low skeletal muscle mass.Acta physiologica (Oxford, England) · 2021Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The use of blood-circulating cell-free DNA (cfDNA) as a "liquid biopsy" in oncology is being explored for its potential as a cancer biomarker. Mitochondria contain their own circular genomic entity (mitochondrial DNA, mtDNA), up to even thousands of copies per cell. The mutation rate of mtDNA is several orders of magnitude higher than that of the nuclear DNA. Tumor-specific variants have been identified in tumors along the entire mtDNA, and their number varies among and within tumors. The high mtDNA copy number per cell and the high mtDNA mutation rate make it worthwhile to explore the potential of tumor-specific cf-mtDNA variants as cancer marker in the blood of cancer patients. We used single-molecule real-time (SMRT) sequencing to profile the entire mtDNA of 19 tissue specimens (primary tumor and/or metastatic sites, and tumor-adjacent normal tissue) and 9 cfDNA samples, originating from 8 cancer patients (5 breast, 3 colon). For each patient, tumor-specific mtDNA variants were detected and traced in cfDNA by SMRT sequencing and/or digital PCR to explore their feasibility as cancer biomarker. As a reference, we measured other blood-circulating biomarkers for these patients, including driver mutations in nuclear-encoded cfDNA and cancer-antigen levels or circulating tumor cells. Four of the 24 (17%) tumor-specific mtDNA variants were detected in cfDNA, however at much lower allele frequencies compared to mutations in nuclear-encoded driver genes in the same samples. Also, extensive heterogeneity was observed among the heteroplasmic mtDNA variants present in an individual. We conclude that there is limited value in tracing tumor-specific mtDNA variants in blood-circulating cfDNA with the current methods available.
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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.