ArticlePloS one2015
Detection of Ultra-Rare Mitochondrial Mutations in Breast Stem Cells by Duplex Sequencing.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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The trial behind it
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
27 citing papers in PubMed, 41 citations in OpenAlex.
- Detection of mutations: from Ames test to duplex sequencing.Frontiers in molecular biosciences · 2026Review
- Understanding the impact of mitochondrial DNA mutations on aging and carcinogenesis (Review).International journal of molecular medicine · 2025Review
- Somatic mutation burden in relation to aging and functional life span: implications for cellular reprogramming and rejuvenation.Current opinion in genetics & development · 2023Review
- Evaluating the performance of low-frequency variant calling tools for the detection of variants from short-read deep sequencing data.Scientific reports · 2023Article
- Detection of DNA replication errors and 8-oxo-dGTP-mediated mutations in E. coli by Duplex DNA Sequencing.DNA repair · 2023Article
- Changes of Mutations and Copy-Number and Enhanced Cell Migration during Breast Tumorigenesis.Advanced biology · 2023Article
- Mitochondrial DNAFrontiers in ophthalmology · 2023Article
- Role of mitochondrial DNA in diabetes Mellitus Type I and Type II.Saudi journal of biological sciences · 2022Review
- OPUSeq simplifies detection of low-frequency DNA variants and uncovers fragmentase-associated artifacts.NAR genomics and bioinformatics · 2022Article
- Potential clinical utility of liquid biopsies in ovarian cancer.Molecular cancer · 2022Review
- Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA.Frontiers in genetics · 2022Article
- Mitochondrial Heteroplasmy Shifting as a Potential Biomarker of Cancer Progression.International journal of molecular sciences · 2021Review
- The Role of Mitochondrial Mutations and Chronic Inflammation in Diabetes.International journal of molecular sciences · 2021Review
- Increased yields of duplex sequencing data by a series of quality control tools.NAR genomics and bioinformatics · 2021Article
- Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues.PLoS biology · 2020Article
- Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.Clinics in laboratory medicine · 2020Review
- Review
- SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples.Genomics, proteomics & bioinformatics · 2020Article
- Mitochondrial DNA Mutation Analysis in Breast Cancer: Shifting From Germline Heteroplasmy Toward Homoplasmy in Tumors.Frontiers in oncology · 2020Article
- Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila.Nature communications · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Long-lived adult stem cells could accumulate non-repaired DNA damage or mutations that increase the risk of tumor formation. To date, studies on mutations in stem cells have concentrated on clonal (homoplasmic) mutations and have not focused on rarely occurring stochastic mutations that may accumulate during stem cell dormancy. A major challenge in investigating these rare mutations is that conventional next generation sequencing (NGS) methods have high error rates. We have established a new method termed Duplex Sequencing (DS), which detects mutations with unprecedented accuracy. We present a comprehensive analysis of mitochondrial DNA mutations in human breast normal stem cells and non-stem cells using DS. The vast majority of mutations occur at low frequency and are not detectable by NGS. The most prevalent point mutation types are the C>T/G>A and A>G/T>C transitions. The mutations exhibit a strand bias with higher prevalence of G>A, T>C, and A>C mutations on the light strand of the mitochondrial genome. The overall rare mutation frequency is significantly lower in stem cells than in the corresponding non-stem cells. We have identified common and unique non-homoplasmic mutations between non-stem and stem cells that include new mutations which have not been reported previously. Four mutations found within the MT-ND5 gene (m.12684G>A, m.12705C>T, m.13095T>C, m.13105A>G) are present in all groups of stem and non-stem cells. Two mutations (m.8567T>C, m.10547C>G) are found only in non-stem cells. This first genome-wide analysis of mitochondrial DNA mutations may aid in characterizing human breast normal epithelial cells and serve as a reference for cancer stem cell mutation profiles.
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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.