GENOME-WIDE SIGNIFICANT RISK ASSOCIATIONS FOR MUCINOUS EPITHELIAL OVARIAN CARCINOMA
Mucinous ovarian cancer (MOC) is the rarest subtype and therefore one of the hardest to study. Here we performed a case/control study with a cohort of 1,600 MOC patients and ~22k controls. We identified 3 associated risk regions at 2q13, 2q31.1 and 19q13.2. Using a technique called ‘eQTL’ we found genes whose expression correlated with the variants in these regions, and identified them as HOXD9, and PAX8. In addition we found support for these conclusions by chromatin capture assays, which measure the physical looping of enhancers to these genes.