Original research
Common mitochondrial polymorphisms as risk factor for endometrial cancer
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* Corresponding author: Anna M Czarnecka anna.czarnecka@gmail.com
- † Equal contributors
1 Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106, Warsaw, Poland
2 School of Molecular Medicine, Medical University of Warsaw, Zwirki i Wigury 61, 02-091 Warsaw, Poland
3 II Clinic and Ward of Gynecology, Medical University of Lublin, Lublin, Poland
4 Department of Human Genetics, Lublin University School of Medicine, Lublin, Poland
5 Clinical Pathology Laboratory, Monument Institute of Polish Mothers Health Center, Lodz, Poland
6 Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Müllner Hauptstr 48, A-5020 Salzburg, Austria
7 Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106 Warsaw, Poland
International Archives of Medicine 2009, 2:33 doi:10.1186/1755-7682-2-33
Published: 28 October 2009Abstract
Endometrial carcinoma is the most commonly diagnosed gynaecological cancer in developed countries. Although the molecular genetics of this disease has been in the focus of many research laboratories for the last 20 years, relevant prognostic and diagnostic markers are still missing. At the same time mitochondrial DNA mutations have been reported in many types of cancer during the last two decades. It is therefore very likely that the mitochondrial genotype is one of the cancer susceptibility factors. To investigate the presence of mtDNA somatic mutations and distribution of inherited polymorphisms in endometrial adenocarcinoma patients we analyzed the D-loop sequence of cancer samples and their corresponding normal tissues and moreover performed mitochondrial haplogroup analysis. We detected 2 somatic mutation and increased incidence of mtDNA polymorphisms, in particular 16223C (80% patients, p = 0.005), 16126C (23%, p = 0.025) and 207A (19%, p = 0.027). Subsequent statistical analysis revealed that endometrial carcinoma population haplogroup distribution differs from the Polish population and that haplogroup H (with its defining polymorphism - C7028T) is strongly underrepresented (p = 0.003), therefore might be a cancer-protective factor. Our report supports the notion that mtDNA polymorphisms establish a specific genetic background for endometrial adenocarcinoma development and that mtDNA analysis may result in the development of new molecular tool for cancer detection.