Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study

Identifying women at high epithelial ovarian cancer (EOC) risk can inform personalised decisions on risk-reducing surgery and can facilitate early detection strategies. Genome-wide association studies have identified >30 single nucleotide polymorphisms (SNPs) associated with EOC. We evaluated their combined effects (polygenic risk scores – PRS) on EOC risk and assessed their implications for EOC risk prediction in an independent prospective cohort study. Results confirm that the PRS is a strong risk factor for EOC and that it contributes towards the discrimination of women who will develop EOC. The PRS should be included in EOC risk prediction models together with other risk factors to facilitate targeted prevention. (By Xin Yang and Prof Antonis C Antoniou, http://jmg.bmj.com/content/early/2018/05/05/jmedgenet-2018-105313 )

Absolute risk of developing overall ovarian cancers by overall polygenic risk score (PRS) percentiles