Colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of APC gene): , review of the literature and genetic commentary

Stec, Rafał; Pławski, Andrzej; Synowiec, Agnieszka; Mączewski, Michał; Szczylik, Cezary

doi:10.5114/aoms.2010.13911

Cited by 18 publications

(16 citation statements)

References 15 publications

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“…Colorectal cancer (CRC) is one of the most common malignancies worldwide and the third leading cause of cancer-related death in humans [ 1 , 2 ]. Nearly eight million new colorectal cancer cases are diagnosed each year worldwide.…”

Section: Introductionmentioning

confidence: 99%

Expression and clinical significance of cytochrome c oxidase subunit IV in colorectal cancer patients

Zhang¹,

Chen²,

Huang³

et al. 2016

aoms

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IntroductionPrevious studies have demonstrated that the expression of cytochrome c oxidase (COX) subunits encoded by mitochondrial DNA is elevated in colorectal cancer (CRC). However, the expression of nuclear DNA-encoded COX IV and its clinical significance have not yet been investigated in CRC.Material and methodsWe examined COX IV expression in paired CRC samples (cancer and pericancerous tissues) by quantitative real-time polymerase chain reaction (qPCR), Western blot and immunohistochemical staining and analyzed its clinical significance.ResultsqPCR and Western blot analyses showed that COX IV expression was significantly elevated at both the mRNA (p = 0.05) and protein levels in CRC tissue samples when compared with those in paired pericancerous tissues. Immunohistochemistry also revealed that COX IV expression was significantly increased in CRC tissues (p < 0.001). Association analyses showed that there was no significant association between COX IV expression and clinical parameters of CRC patients except for gender (p = 0.017). Moreover, we did not find any association between COX IV expression and overall survival or recurrence-free survival of CRC patients. Further analysis showed no significant relationship between the expression of COX IV and proliferating cell nuclear antigen (PCNA), a marker of cell proliferation.ConclusionsOur findings suggest that elevated COX IV expression may play an important role in colorectal carcinogenesis, but not in progression, which warrants further investigation in future studies.

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Section: Introductionmentioning

confidence: 99%

Expression and clinical significance of cytochrome c oxidase subunit IV in colorectal cancer patients

Zhang¹,

Chen²,

Huang³

et al. 2016

aoms

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show abstract

“…FAP fenotipi gösteren hastalarda, yeni mutasyon saptanma oranı AFAP'ye göre daha yüksektir. 107,108 FAP veya AFAP tanısı alan hastalarda %30-50 oranında APC geninde mutasyon saptanamamaktadır. Bundan dolayı, hastalığa neden olan başka bir genin varlığından şüphelenilmiştir.…”

Section: Fami̇lyal Adenomatöz Poli̇pozi̇s Koli̇unclassified

Genetic Approach to Frequently Seen Pediatric Gastrointestinal System Diseases: Review

Ataman¹,

Erçal²

2016

Turkiye Klinikleri J Pediatr

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“…Despite great improvement in the treatment of colorectal cancer (CRC), this disease is still one of the most common malignancies worldwide and the third leading cause of cancer-related death in the United States [ 1 , 2 ]. The diagnosis and prognosis of patients with this disease remains disproportionally poor because the current clinico-pathological parameters are not sufficient to precisely predict clinical outcome [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Comparison of Pre- and Post-translational Expressions of COXIV-1 and MT-ATPase 6 Genes in Colorectal Adenoma-Carcinoma Tissues [NIH-NIGMS]

et al. 2018

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Objective: Colorectal cancer (CRC) develops from precancerous adenomatous polyps to malignant lesions of adenocarcinoma. Elucidating inhibition mechanisms for this route in patients with a risk of developing CRC is highly important for a potential diagnostic or prognostic marker. Differential expression of nuclear-encoded cytochrome c oxidase subunit 4 (COXIV) seems to contribute to a more unregulated respiration due to loss of ATP inhibition. Majority of energy for tumor transformations are mitochondrial origin. Differences in mitochondrial efficiency may be reflected in the progression of colorectal adenomatous polyps to adenocarcinomas. Here, we evaluate expression levels of COXIV isoform 1 (COXIV-1) and Mitochondrial (MT)-ATP synthase Subunit 6 (ATPase6) in adenomas of tubular, tubulovillous and villous tissues as compared to adenocarcinoma tissues. Method: Both RT-qPCR and western blot techniques were used to assess COXIV-1 and ATPase6 expression levels in 42 pairs of patients’ tissue samples. Protein carbonyl assay was performed to determine levels of oxidized proteins, as a measurement of ROS productions, in the tissue samples. Results: Differential RNA expression levels of COXIV-1 and ATPase6 from whole tissues were observed. Interestingly, RNA expression levels obtained from mitochondrial for COXIV-1 were significantly decreased in tubulovillous, villous adenomas and adenocarcinoma, but not in the tubular-polyps. Moreover, mitochondrial ATPase6 RNA expression levels decreased progressively from adenopolyps to adenocarcinoma. In mitochondrial protein, expression levels of both genes progressively decreased with a three folds from adenomatous polyps to adenocarcinoma. Whilst the ATPase6 protein expression significantly decreased in adenocarcinoma compared to villous, conversely, the levels of oxidized carbonyl proteins were considerably increased from adenomatous polyps to adenocarcinoma. Conclusion: Our findings provide evidence that decreased mitochondrial protein expression of COXIV-1 and ATPase6 correlates with increased ROS production during colorectal adenomatous polyps’ progression, suggesting the pivotal role of COXIV-1 in energy metabolism of colorectal cells as they progress from polyps to carcinoma.

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Colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of APC gene): , review of the literature and genetic commentary

Cited by 18 publications

References 15 publications

Expression and clinical significance of cytochrome c oxidase subunit IV in colorectal cancer patients

Expression and clinical significance of cytochrome c oxidase subunit IV in colorectal cancer patients

Genetic Approach to Frequently Seen Pediatric Gastrointestinal System Diseases: Review

Comparison of Pre- and Post-translational Expressions of COXIV-1 and MT-ATPase 6 Genes in Colorectal Adenoma-Carcinoma Tissues [NIH-NIGMS]

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