High frequency of mitochondrial genome instability in human endometrial carcinomas

Liu, Vincent W.S.; Yang, H J; Wang, Y; Tsang, Paul Wai-Kei; Cheung, Annie N.Y.; Chiu, Pei-Chen; Ng, TY; Wong, L.C.; Nagley, Phillip; Ngan, Hextan Y.S.

doi:10.1038/sj.bjc.6601110

Cited by 55 publications

(49 citation statements)

References 12 publications

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“…In contrast to the present study, various somatic mutations ranging from 25 to 60% have been reported in mitochondrial coding regions in many cancers (Liu et al, 2003;Abu-Amero et al, 2005;Yin et al, 2010). The variant A10398G in the ND3 gene was reported as somatic mtDNA mutation in cancers of breast, colorectal and prostate (Canter et al, 2005;Zhu et al, 2005;AllalunisTurner et al, 2006), while the variant A8701G in the ATP6 gene was identified as somatic mtDNA mutation in the cancers of breast and thyroid (Tan et al, 2002;Abu-Amero et al, 2005).…”

Section: Discussioncontrasting

confidence: 49%

Novel Mutations in Cholangiocarcinoma with Low Frequencies Revealed by Whole Mitochondrial Genome Sequencing

Muisuk

Silsirivanit²,

Imtawil³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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Background: Mitochondrial DNA (mtDNA) mutations have been shown to be associated with cancer. This study explored whether mtDNA mutations enhance cholangiocarcinoma (CCA) development in individuals. Materials and Methods: The whole mitochondrial genome sequences of 25 CCA patient tissues were determined and compared to those of white blood cells from the corresponding individuals and 12 healthy controls. The mitochondrial genome was amplified using primers from Mitoseq and compared with the Cambridge Reference Sequence. Results: A total of 161 mutations were identified in CCA tissues and the corresponding white blood cells, indicating germline origins. Sixty-five (40%) were new. Nine mutations, representing those most frequently observed in CCA were tested on the larger cohort of 60 CCA patients and 55 controls. Similar occurrence frequencies were observed in both groups. Conclusions: While the correspondence between the cancer and mitochondrial genome mutation was low, it is of interest to explore the functions of the missense mutations in a larger cohort, given the possibility of targeting mitochondria for cancer markers and therapy in the future.

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Section: Discussioncontrasting

confidence: 49%

Novel Mutations in Cholangiocarcinoma with Low Frequencies Revealed by Whole Mitochondrial Genome Sequencing

Muisuk

Silsirivanit²,

Imtawil³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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“…According to last version of rCRS, D-Loop contains 5 CA repeats at np514-523 but our result showed dinucleotide microsatellite instability in this region. About 20% of cancer patients and 15% of BPH patients had CA deletion at this site which is about ten fold greater than endometrial carcinoma (Liu et al, 2003). Thus, it is likely that there are different mechanisms of mtDNA alterations and repair in different tissues during tumorigenesis.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial D-Loop Polymorphism and Microsatellite Instability in Prostate Cancer and Benign Hyperplasia Patients

Ashtiani

Heidari²,

Hasheminasab³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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In this study mitochondrial D-Loop variations in Iranian prostate cancer and benign prostatic hyperplasia (BPH) patients were investigated. Tumour samples and corresponding non-cancerous prostate tissue from 40 prostate cancer patients and 40 age-matched BPH patients were collected. The entire mtD-loop region (16024-576) was amplified using the PCR method and products were gel-purified and subjected to direct nucleotide sequencing. A total of 129 variations were found, the most frequent being 263AgG and 310TgC among both BPH and prostate cancer patients. Variation of 309 CgT was significantly more frequent in prostate cancer patients (P value<0.05). Four novel variations were observed on comparison with the MITOMAP database. Novel variations were np16154delT, np366GgA, np389GgA and 56insT. There was no correspondence between the different variations and the age of subjects. Considering that D-loop variations were frequent in both BPH and prostate cancer patients in our study, the fact that both groups had high average age can be a possible contributing factor. D-loop polymorphisms and microsatellite instability can influence cell physiology and result in a benign or malignant phenotype. Significantly higher frequency of 309 CgT variation in cancer patients is a notable finding and must be a focus of attention in future studies.

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“…In our previous studies, we have demonstrated the occurrence of high frequencies of somatic mtDNA mutations in endometrial (Liu et al, 2003) and ovarian carcinomas (Liu et al, 2001). In addition, we have also found that mtDNA copy number was significantly elevated in endometrial adenocarcinoma when compared with normal endometrial glandular epithelium (Wang et al, 2005).…”

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confidence: 99%

Association of decreased mitochondrial DNA content with ovarian cancer progression

et al. 2006

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Mitochondrial DNA (mtDNA) content in ovarian carcinomas was assessed by quantitative PCR. Results show that mtDNA content in tumour cell was significantly higher than that in normal ovary. Change in mtDNA content was not related with patients' age or tumour stages. However, the average mtDNA copy number in pathological low-grade tumours was over two-fold higher than that in high-grade carcinomas (P ¼ 0.012). Moreover, type I carcinomas also had a significantly higher mtDNA copy number than in type II carcinomas (P ¼ 0.019). Change in mtDNA content might be an important genetic event in the progression of ovarian carcinomas.

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High frequency of mitochondrial genome instability in human endometrial carcinomas

Cited by 55 publications

References 12 publications

Novel Mutations in Cholangiocarcinoma with Low Frequencies Revealed by Whole Mitochondrial Genome Sequencing

Novel Mutations in Cholangiocarcinoma with Low Frequencies Revealed by Whole Mitochondrial Genome Sequencing

Mitochondrial D-Loop Polymorphism and Microsatellite Instability in Prostate Cancer and Benign Hyperplasia Patients

Association of decreased mitochondrial DNA content with ovarian cancer progression

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