Researchers shed light on genetics of endometrial cancer risk

Using a tissue-specific genetic association study, researchers have identified eight genes associated with an increased risk of endometrial cancer.

The scientists from the QIMR Berghofer Medical Research Institute in Brisbane, Australia identified the genes in an analysis of genetic data from the Endometrial Cancer Association Consortium which includes over 108,797 women of European ancestry, 12,906 of whom have endometrial cancer. They combined the results of this analysis with gene expression data from the Genotype-Tissue Expression project, to identify genes expressed in six endometrial-cancer related tissues.

'In addition to identifying genes that appear to affect endometrial cancer risk, we also identified the actual tissues that some of these genes may act in,' said Dr Tracy O'Mara, who led the study with Dr Dylan Glubb. 'This is quite exciting, as this information can give us an important insight into the underlying biology of endometrial cancer and its development.'

The analysis identified eight genes associated with increased risk of endometrial cancer, two of which have not been associated with endometrial cancer before. The study also demonstrated expression of these genes in fat, uterine and vaginal tissue which could provide some insight into the origins and mechanisms of the disease.

'Endometrial cancer rates are rising in many countries so it's expected to be an ongoing and increasing problem, yet it is still under-researched compared to other cancers,' said Dr Glubb. 'This study represents a significant step forward in increasing our understanding of the gynaecological cancer, and developing more treatment options.'

Having identified potential risk genes, the researchers looked at whether there are any existing drugs targeting these genes, for example in other cancer types, that could now be applied to endometrial cancer patients.

'Now we have identified potential risk genes, we can search for drugs that target the products of those genes or counteract the changes in gene expression linked to endometrial cancer susceptibility,' said Dr Glubb. 'We've already found one candidate which is currently in phase three clinical trials for brain cancer and lymphoma. It hasn't been studied for endometrial cancer but our data suggests it could be promising.'