Journal article

Prospective Evaluation of the Addition of Polygenic Risk Scores to Breast Cancer Risk Models

Sherly X Li, Roger L Milne, Tu Nguyen-Dumont, Xiaochuan Wang, Dallas R English, Graham G Giles, Melissa C Southey, Antonis C Antoniou, Andrew Lee, Shuai Li, Ingrid Winship, John L Hopper, Mary Beth Terry, Robert J MacInnis



Background: The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm and the International Breast Cancer Intervention Study breast cancer risk models are used to provide advice on screening intervals and chemoprevention. We evaluated the performance of these models, which now incorporate polygenic risk scores (PRSs), using a prospective cohort study. Methods: We used a case-cohort design, involving women in the Melbourne Collaborative Cohort Study aged 50-75 years when surveyed in 2003-2007, of whom 408 had a first primary breast cancer diagnosed within 10 years (cases), and 2783 were from the subcohort. Ten-year risks were calculated based on lifestyle factors, ..

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Awarded by Australian National Health and Medical Research Council (NHMRC)

Awarded by Cancer Research - UK grant

Funding Acknowledgements

This work was primarily supported by grant 1129136 from the Australian National Health and Medical Research Council (NHMRC) ( cohort recruitment was funded by Cancer Council Victoria ( and VicHealth ( MCCS was further supported by Australian NHMRC grants 209057, 396414, and 1074383, and ongoing follow-up and data management have been funded by Cancer Council Victoria since 1995. Cases and their vital status were ascertained through the Victorian Cancer Registry and the Australian Institute of Health and Welfare, including the National Death Index and the Australian Cancer Database.TN-D is a recipient of a Career Development Fellowship from the National Breast Cancer Foundation (Australia). JLH and MCS are Senior Principal and Senior Research Fellows of the National Health and Medical Research Council (Australia), respectively. SL is a Victorian Cancer Agency Early Career Research Fellow (Australia). AL and ACA are supported by Cancer Research - UK grant C12292/A20861