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2 March 2022

What is the current status of research on polygenic scores?

What are the main opportunities and limitations of polygenic scores for cancer prevention?

How could polygenic scores be applied clinically for cancer prevention in the future?


Dr James McKay

Deputy Head, Genomic Epidemiology Branch

International Agency for Research on Cancer, Lyon, France



Dr Nilanjan Chatterjee

Bloomberg Distinguished Professor of Biostatistics and Genetic Epidemiology

Johns Hopkins University, Baltimore, USA

Genome-wide association studies of increasing sample size and diverse ancestry are now leading to polygenic scores with significant potential for risk stratification across cancers. This presentation will provide a brief overview of emerging opportunities and discuss some limitations of the use of polygenic scores for developing risk-stratified approaches to cancer prevention. Dr Chatterjee will describe results from a recent study on the validation of a breast cancer risk prediction model that integrates polygenic scores with other established risk factors and will provide an assessment of the potential clinical utility of the model for breast cancer prevention.  


Dr Linda Kachuri

Postdoctoral Scholar | incoming Assistant Professor in the Department of Epidemiology and Population Health

University of California San Francisco | Stanford University, USA

Prostate-specific antigen (PSA) screening for prostate cancer is widely used, but it remains controversial because of issues with sensitivity and specificity. PSA level is highly heritable, and therefore one avenue for improving its diagnostic accuracy is to account for variation in PSA level that is due to genetics and does not reflect prostate cancer. Dr Kachuri will present findings from the largest genome-wide association study of PSA levels and will demonstrate how using a polygenic score to correct PSA values can improve the clinical utility by reducing overdiagnosis and unnecessary testing and increasing detection of aggressive disease.


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Webinar Recording – Polygenic Scores for Cancer Prevention

Recorded on 2 March 2022.

Webinar organized with the support of and in collaboration with the European Society for Medical Oncology (ESMO).


And other not-to-be-missed resources on polygenic scores

VIDEO: Polygenic risk scores improve cancer risk prediction and stratification (4 minutes)

Hurson A N et al. for the B-CAST Risk Modelling Group (2021). Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries. Int J of Epidemiol. 50(6): 1897-1911. 

Kachuri L (2021). Polygenic risk scores improve cancer risk prediction and stratification, Behind the Paper, Nature Portfolio Cancer Community.

Kachuri L et al. (2020). Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction. Nature Communications. 11(1): 6084.    

Wang T et al. (2021). Commentary: Polygenic risk for breast cancer: in search for potential clinical utility. Int J of Epidemiol. 50(6): 1911-1913.          

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