Common mitochondrial polymorphisms as risk factor for endometrial cancer

Endometrial carcinoma is the most commonly diagnosed gynaecological cancer in developed countries. Although the molecular genetics of this disease had been in the focus of many research laboratories for the last 20 years, but relevant prognostic and diagnostic markers are still missing.

At the same time mitochondrial DNA mutations have been reported in many types of cancer during last two decades. It is therefore more than possible, that 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 population we analyzed the sequence D-loop of cancer samples and their corresponding normal tissues and moreover performed mitochondrial haplogroup analysis. As a result 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 firmly 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.

Author: Anna CzarneckaAleksandra KlembaAndrzej SemczukKatarzyna PlakBarbara MarzecTomasz KrawczykBarbara KoflerPawel GolikEwa Bartnik
Credits/Source: International Archives of Medicine 2009, 2:33

Published on: 2009-10-28

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