From Risk Variants to Genes: Understanding Endometrial Cancer Susceptibility

We and our international Endometrial Cancer Association Consortium collaborators have identified a number of endometrial cancer risk regions in the genome. Although we have identified potentially causal risk variants, the target genes at most regions remain unknown. To address this, we have profiled the regulatory landscape of these loci using gene expression, chromatin accessibility, chromatin looping, and single-cell multiomic data from endometrial cell lines, organoid models, and tumour samples. These datasets will allow us to identify and prioritise candidate susceptibility genes for functional validation.

Identify high confidence gene targets of endometrial cancer risk variants and assess their effects on relevant phenotypes in endometrial cancer models.

Through the identification of endometrial cancer risk genes, we will gain a deeper understanding of endometrial cancer aetiology and identify potential targets for endometrial cancer therapy.