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Endometrial cancer affects the internal lining of the uterus which is known as the endometrium. It is one of the commonest cancers in women. This study has revealed that the genetic factors linked with endometrial cancer are more than previously thought.
The study was carried out by researchers at the University of Cambridge, the Oxford University and QIMR Berghofer Medical Research Institute in Brisbane through an international collaboration of scientists from the United Kingdom, German, Belgium, Norway, Sweden, the United States and China.
The basic aim of the study was to study the genetic variants that enhance the risk of endometrial cancer in women. This study was subsequently published in Nature Genetics. During the course of this study, the DNA pattern of more than 7,000 women who had been diagnosed with the endometrial cancer, and 37,000 women without the cancer, was studied. All the cases and controls were of European ancestry.
The study consisted of a meta-analysis of three genome-wide association studies (GWAS) and two follow-up phases.
Understanding the Genetic Basis of Endometrial Cancer
Before this study, only four gene regions were known to be linked with endometrial cancer. This study helped discover five more loci (gene regions), bringing the total number of genetic regions in which variation increases the odds of endometrial cancer, to nine.
A particularly interesting fact about this discovery is that some of the newly unearthed genetic regions are already known to increase the chances of other cancers, especially the prostate cancer and the ovarian cancer.
Each of the variants enhances the risk of developing this cancer by about ten to 15 percent. However, the important thing is to look into the total number of variants that are passed onto the women and to identify other risk factors for endometrial cancer in order to identify the women who are at high risk of endometrial cancer.
The researchers also studied how the variation within these genetic regions increases the risk of endometrial cancer to understand the genetic pathology underlying this cancer.
The Future Prospects
The study has proved to be a big leap forwards towards unraveling the genetic causes of endometrial cancer. According to Dr Deborah Thompson from the Department of Public Health and Primary Care at the University of Cambridge, these findings have helped clear the lingering doubts about the genetic basis of endometrial cancer in women, especially in patients who do not have a significant family history of the disease.
Looking into the genetic etiology of endometrial cancer will help identify high risk groups so that monitoring of these women can be started early so that even the slightest symptoms of the disease can be picked up. This way, early diagnosis and prompt intervention will be possible.
This study has also paved way for identifying the existing drugs besides developing new therapeutic measures that can target these genetic risk factors. This study is anticipated to have a major impact on the prevention programs for endometrial cancer and cancer-related morbidity and mortality in women.