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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.


Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10(-8)), rs711830 at 2q31.1 (P = 7.5 × 10(-12)) and rs688187 at 19q13.2 (P = 6.8 × 10(-13)). We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 × 10(-4), false discovery rate (FDR) = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09). Chromosome conformation capture analysis identified interactions between the HOXD9 promoter and risk-associated SNPs at 2q31.1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease.

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