Review: Mitochondrial Defects in Breast Cancer

Salgado, Josefa; Honorato, Beatriz; Garcı́a-Foncillas, Jesús

doi:10.4137/cmo.s524

Cited by 9 publications

(13 citation statements)

References 51 publications

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“…Although haplogrouping is primarily used for identifying relationships among individuals and populations, some haplogroups possess sequence variants that also contribute to cancer susceptibility ( 26 – 28 ). Moreover, some somatic mutations may represent haplogroup conversion ( 29 ), complicating interpretability of mtDNA data.…”

Section: The Mitochondrial Genome’s Mutational Landscapementioning

confidence: 99%

“…Although variants of this type (especially from slippage associated with mononucleotide repeats) are often discussed with substitutions in cancer literature, they are presented here with other structural variants given the nature of the genetic variation. High levels of nuclear MSI throughout the nuclear genome have been associated with tumorigenesis in some types of cancer ( 29 , 80 ). Frequency of this hypermutator phenotype within and across cancer types, however, is variable, and nuclear MSI is not associated with mitochondrial MSI ( 81 ) or mtDNA mutations in general ( 82 ).…”

Section: The Mitochondrial Genome’s Mutational Landscapementioning

confidence: 99%

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The Landscape of mtDNA Modifications in Cancer: A Tale of Two Cities

Hertweck

Dasgupta

2017

Front. Oncol.

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Mitochondria from normal and cancerous cells represent a tale of two cities, wherein both execute similar processes but with different cellular and molecular effects. Given the number of reviews currently available which describe the functional implications of mitochondrial mutations in cancer, this article focuses on documenting current knowledge in the abundance and distribution of somatic mitochondrial mutations, followed by elucidation of processes which affect the fate of mutations in cancer cells. The conclusion includes an overview of translational implications for mtDNA mutations, as well as recommendations for future research uniting mitochondrial variants and tumorigenesis.

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Section: The Mitochondrial Genome’s Mutational Landscapementioning

confidence: 99%

Section: The Mitochondrial Genome’s Mutational Landscapementioning

confidence: 99%

The Landscape of mtDNA Modifications in Cancer: A Tale of Two Cities

Hertweck

Dasgupta

2017

Front. Oncol.

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“…mtDNA has been studied as a potential biomarker in assessing the risk of developing breast cancer in certain populations (21,22). The mitochondrial D-loop region has been shown to be a hotspot of variations associated with breast cancer (23). In addition, mutations located between positions 303 and 315 are frequently observed in cancer (24).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of non‑coding region sequence variants and mitochondrial haplogroups as potential biomarkers of sporadic breast cancer in individuals of Sri Lankan Sinhalese ethnicity

et al. 2020

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Mitochondrial DNA (mtDNA) mutations have been reported to be associated with various diseases, including cancer. The present study investigated the mtDNA non-coding region mutations and mitochondrial haplogroups as potential biomarkers of sporadic breast cancer in Sri Lankan Sinhalese women. Mitochondrial macro-haplogroups were determined using PCR-restriction fragment length polymorphism, whereas non-coding region sequences were determined using Sanger sequencing. The sequence of the non-coding region was also used to confirm haplogroup status. Neither the mutations in the non-coding region nor the mitochondrial haplogroups that were reported as risk factors in other populations, were determined to be potential risk factors for sporadic breast cancer in the present study. Furthermore, several novel mutations were identified in the present matched pairs case-controlled study. The M65a haplogroup with an additional mutation at position 16311 (P=0.0771) and mutations at the ori-b site (P=0.05) were considered a weak risk factor and protective factor, respectively, for sporadic breast cancer in Sinhalese women. Previous studies have indicated the use of mtDNA mutations as a biomarker; however, the present study showed that such biomarkers need to be validated for individual ethnic groups before they can be recommended for use in the prediction of disease.

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“…Other frequently reported mtDNA mutations associated with breast cancer is at the NADH dehydrogenase subunits 1,2,4,5 ATP synthase F0 subunit 8, cytochrome c oxidase subunit III. Mutations in 12s and 16s rRNA have also been reported in breast cancer patients [132,143]. Another study identified novel tRNA mutations in two breast cancer cell lines [144].…”

Section: Mitochondrial Defects In Breast Cancermentioning

confidence: 98%

“…However, the mitochondrial heterogeneity among breast cancer patients has remained a neglected area of breast cancer research. Defects in mitochondrial functions, mitochondrial genome defects including reduced copy numbers, germline or somatic mtDNA mutations and Microsatellite Instability (MSI) have been reported in a high percentage of breast cancer patients [128][129][130][131][132][133][134]. Clinical reports from various cohorts and The Cancer Genome Atlas (TCGA) show a significant percentage of hormone receptor (Estrogen and Progesterone receptor) and Herceptin (HER2) Triple Negative Breast Tumors (TNBC) are highly aggressive and have poor prognostic outcomes.…”

Section: Mitochondrial Defects In Breast Cancermentioning

confidence: 99%

Epithelial To Mesenchymal Transition in Breast Cancer Metastasis: Mitochondria Take the Center Stage

Guha¹

2016

CBCM

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Epithelial to Mesenchymal Transition (EMT), a process involved in organogenesis and wound healing is now at the center stage of cancer metastasis. While most of the current research is focused on defects arising in the nuclear genome, the contribution of defects in mitochondria has remained under investigated. In the past decade, the association between mitochondrial genomic (mtDNA) and functional defects resulting in altered metabolism with tumor progression and poor outcome has become more evident. Here we review the contribution of mitochondria in epithelial-to-mesenchymal transition, particularly focusing on breast cancer. Our goal is to highlight the critical role that mitochondrial genome defects induced retrograde signaling play in driving cellular plasticity. We will further discuss the molecular intermediates of the retrograde signaling pathway, which can potentially be novel therapeutic targets in mitochondrial stress induced EMT.

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Review: Mitochondrial Defects in Breast Cancer

Cited by 9 publications

References 51 publications

The Landscape of mtDNA Modifications in Cancer: A Tale of Two Cities

The Landscape of mtDNA Modifications in Cancer: A Tale of Two Cities

Evaluation of non‑coding region sequence variants and mitochondrial haplogroups as potential biomarkers of sporadic breast cancer in individuals of Sri Lankan Sinhalese ethnicity

Epithelial To Mesenchymal Transition in Breast Cancer Metastasis: Mitochondria Take the Center Stage

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