Frequent somatic mutations of mitochondrial DNA in esophageal squamous cell carcinoma

Kumimoto, Hiroshi; Yamane, Yoshihiro; Nishimoto, Yoshio; Fukami, Hiroko; Sekiguchi, Masayuki; Hatooka, Shunzo; Ishizaki, Kanji

doi:10.1002/ijc.11564

Cited by 56 publications

(39 citation statements)

References 32 publications

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“…This result was confirmed later by other work (9,10,11), allowing us to conclude that NGI and mtGI are independent events with different mechanisms of origin.…”

Section: Introductionsupporting

confidence: 86%

Analysis Association between Mitochondrial Genome Instability and Xenobiotic Metabolizing Genes in Human Breast Cancer

Pavicic

Laguens

Richard

2009

Mol Med

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The aim of this study was to determine the existence of association between the genetic polymorphisms of metabolizing genes GSTM-1, GSTT-1, and NAT-2, and the presence of mitochondrial genome instability (mtGI) in breast cancer cases. Ninety-four pairs of tumoral/nontumoral breast cancer samples were analyzed. Our samples showed 40.42% of mtGI by analysis of two D-loop region markers, a (CA)n mtMS starting at the 514-bp position, and four informative MnlI sites between the 16,108-16,420-bp. GSTM-1 null genotype has shown a significant association with mtGI presence (χ 2 = 7.62; P = 0.006) in breast cancer cases; moreover, these genotypes also are related to an increased risk for mtDNA damage (odds ratio [OR] = 3.71 [1.41-9.88]; 95% Cornfield confidence interval [CI]). These results suggest that the absence of GSTM-1 enzymatic activity favors chemical actions in damaging the mtDNA. Analysis of GSTT-1 and NAT-2 polymorphisms showed no association with mtGI (χ 2 = 0.03; P = 0.87 and χ 2 = 2.76; P = 0.09, respectively). The analysis of invasive breast cancer cases showed mtGI in 74.36% of ILC cases (29 of 39 samples), and in only 18.75% (9 out of 48) IDC cases; this result suggests a possible relation between mtDNA mutations and variations in molecular pathways of tumor development.

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“…This result was confirmed later by other work (9,10,11), allowing us to conclude that NGI and mtGI are independent events with different mechanisms of origin.…”

Section: Introductionsupporting

confidence: 86%

Analysis Association between Mitochondrial Genome Instability and Xenobiotic Metabolizing Genes in Human Breast Cancer

Pavicic

Laguens

Richard

2009

Mol Med

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“…Numerous mtDNA mutations have been reported in various tumor tissues; some were somatic and others were germline mutations (12)(13)(14)(15)(16)(17)(18)(19)(20)(21). Of note, the majority of these mutations were homoplasmic.…”

Section: Mtdna Mutations In Human Tumor Cellsmentioning

confidence: 99%

Mitochondrial DNA mutations in human tumor cells

Hong

2012

Oncology Letters

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Abstract. Mitochondria play significant roles in cellular energy metabolism, free radical generation and apoptosis. The dysfunction of mitochondria is correlated with the origin and progression of tumors; thus, mutations in the mitochondrial genome that affect mitochondrial function may be one of the causal factors of tumorigenesis. Although the role of mitochondrial DNA (mtDNA) mutations in carcinogenesis has been investigated extensively by various approaches, the conclusions remain controversial to date. This review briefly summarizes the recent progress in this field.

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“…During the past few years, point mutation or length instability of displacement loop and Coding region, 4,977 deletion or short deletion of mitochondria have been found involved in the colorectal (4,5), breast (6), gastric (7), renal (8), esophageal (9), thyroid cancer (10), and head and neck cancer (11). Furthermore, The increase of mtDNA content with age has been hypothesized to be a compensatory response for the decline in respiratory function (12).…”

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confidence: 99%

Increased Mitochondrial DNA Content in Saliva Associated with Head and Neck Cancer

Jiang

Masayesva

Zahurak

et al. 2005

Clinical Cancer Research

145

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Alterations of the mitochondrial DNA (mtDNA) have been described in human tumors and in other tissues in association with smoking exposure.We did quantitative PCR of cytochrome c oxidase I (Cox I) and cytochrome c oxidase II (Cox II) genes on oral rinse samples obtained from 94 patients with primary head and neck squamous cell carcinoma (HNSC) and a control group of 656 subjects. Mitochondrial DNA/nuclear DNA in saliva from HNSC patients and controls in relationship to smoking exposure, ethanol intake, and tumor stage were examined. Mean levels of Cox I and Cox II in saliva samples were significantly higher in HNSC patients: Cox I, 0.076 [95% confidence interval (95% CI), 0.06-0.09] and Cox II, 0.055 (95% CI, 0.04-0.07) in comparison with controls Cox I, 0.054 (95% CI, 0.05-0.06), P < 0.0001 and Cox II, 0.046 (95% CI, 0.04-0.05), P = 0.003 (t test). MtDNA levels were elevated in primary tumors when compared with matched, pretreatment saliva and significant correlation was noted (Cox I, r = 0.30, P = 0.005 and Cox II, r = 0.33, P = 0.002, respectively, Pearson's correlation). On univariate analysis, smoking, age, HNSC diagnosis, and advanced stage of HNSC were associated with higher level of mtDNA content in saliva. Multivariate analysis showed a significant and independent association of HNSC diagnosis, age, and smoking with increasing mtDNA/nuclear DNA for Cox I and Cox II. mtDNA content alteration is associated with HNSC independently of age and smoking exposure, can be detected in saliva, and may be due to elevation in mtDNA content in primary HNSC.

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Frequent somatic mutations of mitochondrial DNA in esophageal squamous cell carcinoma

Cited by 56 publications

References 32 publications

Analysis Association between Mitochondrial Genome Instability and Xenobiotic Metabolizing Genes in Human Breast Cancer

Analysis Association between Mitochondrial Genome Instability and Xenobiotic Metabolizing Genes in Human Breast Cancer

Mitochondrial DNA mutations in human tumor cells

Increased Mitochondrial DNA Content in Saliva Associated with Head and Neck Cancer

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