The Number of Known Genetic Risk Factors for Endometrial Cancer Doubled

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. 

READ Sugary Drinks May Increase Risk of Endometrial Cancer

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. 

USP14 as Predictive Biomarker for Endometrial Cancer Recurrence

One of the most common gynecological cancers around the world, endometrial cancer is known to have a good prognosis if diagnosed and treated early in the course of the disease. In some women, however, the rate of disease recurrence is quite high especially in women with early stage and low grade endometrial cancer. 

The resistant cases of endometrial cancer carry poor prognosis since they are not quite as vulnerable to chemotherapy as the primary cases. This is why the mortality rate associated with recurrent endometrial cancer is quite high. 

In one of the recent groundbreaking studies, scientists have discovered a biomarker that can prove to be valuable for predicting the recurrence of cancer in women who have already undergone treatment for endometrial cancer. 

The Biomarker for Recurrent Endometrial Cancer Found

This research was held at the lab of Martina Bazzaro, Ph.D., of the Masonic Cancer Center, University of Minnesota and Department of Obstetrics, Gynecology, and Women's Health and was led by Bazzaro, a medicinal chemist and cancer biologist.

In this study, it was revealed that the deubiquitinating enzyme (DUB) USP14 is an enzyme that is profoundly involved in the initiation and progression of the recurrent endometrial cancer. It has also been found to cause resistance to chemotherapeutic drugs. Expression of USP14 occurs side by side with the marker of proliferation Ki67 in endometrial cancer cells. 

Deubiquitinating enzymes (DUBs) are principal part of the ubiquitin-dependent protein degradation pathway and are vital for the regulation of a variety of metabolic processes, the most important of which are cell growth, differentiation, and apoptosis. The concentration of USP14 has been found to rise in a number of cancers. 

Women who were found to have high levels of the enzyme USP14 were seven times as likely to have a recurrence of the endometrial cancer following therapy as compared to the women who had low levels of this enzyme. 

The discovery of this enzyme will have far reaching implications in identifying women at high risk of the recurrence of endometrial cancer. By following the USP14 status of a woman, it is possible to make timely intervention and even save her life. 

Further research is underway by Bazzaro to confirm these findings in a large cohort of subjects who have undergone treatment for endometrial cancer in order to study the trends of recurrence and their correlation with the levels of USP14. 

READ Endometrial Cancer: Scientists Find Protective Role Of Exercise, Low-Fat Diet, And Coffee

According to Bazzaro, the next step in the process of improving the quality of life for endometrial cancer patients is to modify the therapy being given to these patients according to the levels of USP14. It will help make the process of risk stratification in endometrial cancer patients quite easy. Patients who are found to have high levels of this biomarker will be given more aggressive chemotherapy in order to minimize the chances of recurrence. 

The future therapy can be designed to work through selective inhibition of DUBs. This discovery holds the potential of helping the clinicians find out a tailored care plan for endometrial cancer patients in order to prevent the recurrence of the disease.