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Vol 88, No 7 (2017)
Research paper
Published online: 2017-07-31
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The presence of A5935G, G5949A, G6081A, G6267A, T9540C mutations in MT-CO1 and MT-CO3 genes and other variants of MT-CO1 and MT-CO3 gene fragments in the study population diagnosed with endometrial cancer

Kinga Księżakowska-Łakoma, Dominika Kulczycka-Wojdala, Andrzej Kulig, Marcin Baum, Jacek Radosław Wilczyński
DOI: 10.5603/GP.a2017.0065
·
Pubmed: 28819937
·
Ginekol Pol 2017;88(7):343-348.

open access

Vol 88, No 7 (2017)
ORIGINAL PAPERS Gynecology
Published online: 2017-07-31

Abstract

Objectives: The specific purpose of this study was the assessment of A5935G, G5949A, G6081A, G6267A mutations in MT-CO1 and T9540C in MT-CO3, and alterations detected during the analysis of MT-CO gene fragments in subject and control groups. A secondary aim was to assess the relationship between MT-CO1 and MT-CO3 gene alterations and endometrial cancer incidence and evaluation of the prognostic value of MT-CO1 and MT-CO3 gene alterations.

Material and methods: In this study, we investigated A5935G, G5949A, G6081A, G6267A mutations in MT-CO1 and T9540C in MT-CO3, and alterations detected during the analysis of MT-CO gene fragments in formalin-fixed, paraffin-embedded endometrial and benign endometrial hyperplasia of a cohort of 125 subjects.

Results: The T9540C mutation in MT-CO3 was detected in one patient from the subject group. None of the remaining muta­tions were detected. The research showed that the presence of alterations in MT-CO1 and MT-CO3 typical of other types of cancer is not a risk factor for endometrial cancer. Analysis of MT-CO1 and MT-CO3 gene fragments revealed 10 alterations (6 and 4 respectively). The alterations detected were identified in 10% of the tested group and 8% of the control group.

Conclusions: The research showed that the presence of alterations in MT-CO1 (A5935G, G5949A, G6081A, G6267A) typical of other types of cancer is not a risk factor for endometrial cancer. Three new alterations detected in this study (A6052G, A9545G, G9575A) were described for the first time.

Abstract

Objectives: The specific purpose of this study was the assessment of A5935G, G5949A, G6081A, G6267A mutations in MT-CO1 and T9540C in MT-CO3, and alterations detected during the analysis of MT-CO gene fragments in subject and control groups. A secondary aim was to assess the relationship between MT-CO1 and MT-CO3 gene alterations and endometrial cancer incidence and evaluation of the prognostic value of MT-CO1 and MT-CO3 gene alterations.

Material and methods: In this study, we investigated A5935G, G5949A, G6081A, G6267A mutations in MT-CO1 and T9540C in MT-CO3, and alterations detected during the analysis of MT-CO gene fragments in formalin-fixed, paraffin-embedded endometrial and benign endometrial hyperplasia of a cohort of 125 subjects.

Results: The T9540C mutation in MT-CO3 was detected in one patient from the subject group. None of the remaining muta­tions were detected. The research showed that the presence of alterations in MT-CO1 and MT-CO3 typical of other types of cancer is not a risk factor for endometrial cancer. Analysis of MT-CO1 and MT-CO3 gene fragments revealed 10 alterations (6 and 4 respectively). The alterations detected were identified in 10% of the tested group and 8% of the control group.

Conclusions: The research showed that the presence of alterations in MT-CO1 (A5935G, G5949A, G6081A, G6267A) typical of other types of cancer is not a risk factor for endometrial cancer. Three new alterations detected in this study (A6052G, A9545G, G9575A) were described for the first time.

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Keywords

mtDNA mutations, alterations in MT-CO1, alterations in MT-CO3, endometrial cancer

About this article
Title

The presence of A5935G, G5949A, G6081A, G6267A, T9540C mutations in MT-CO1 and MT-CO3 genes and other variants of MT-CO1 and MT-CO3 gene fragments in the study population diagnosed with endometrial cancer

Journal

Ginekologia Polska

Issue

Vol 88, No 7 (2017)

Article type

Research paper

Pages

343-348

Published online

2017-07-31

DOI

10.5603/GP.a2017.0065

Pubmed

28819937

Bibliographic record

Ginekol Pol 2017;88(7):343-348.

Keywords

mtDNA mutations
alterations in MT-CO1
alterations in MT-CO3
endometrial cancer

Authors

Kinga Księżakowska-Łakoma
Dominika Kulczycka-Wojdala
Andrzej Kulig
Marcin Baum
Jacek Radosław Wilczyński

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