Abstract
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.
Highlights
Endometrial cancer (EC) is the most frequently occurring invasive neoplasm of the female genital tract worldwide [1,2]
Polymorphisms in the coding region In addition to D-loop polymorphism, our study reveals we were able to detect 11 additional germ-line polymorphisms (Additional file 2; Table S2): four in 12S rRNA, one in ND1, ND2, ND3, CO3, tRNA-Arg, tRNAPro, which differ in our population from revised Cambridge Reference Sequence (rCRS)
In conclusion we suggest that mitochondrial research will enable to establish bio-markers helping to identify individuals at high risk for developing specific cancer types and to develop screening approaches for early diagnosis of cancer [14,24,84,88]
Summary
Endometrial cancer (EC) is the most frequently occurring invasive neoplasm of the female genital tract worldwide [1,2]. International Archives of Medicine 2009, 2:33 http://www.intarchmed.com/content/2/1/33 time approximately 7400 of women were expected to die from this cancer in USA and 46 600 in Europe annually These data enable to calculate that altogether 2.45% of women born today will be diagnosed with EC at some time during their lifetime [3,4]. The overall quality of surgical staging may be poor and very different from case to case as it is related to both the year that the surgeon passed the license examination and to specialist status and experience [8] It the face of presented data the need for new medical formation programmes and novel diagnostic and prognostic markers is evident. On the basis of recent reports, it seems possible that a molecular mtDNA-analysis-based approach may be used in clinics in the future [6,12,13,14,15,16,17,18,19]
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