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Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population
Lorenzo Ficorella1, Xin Yang2, Nasim Mavaddat2
1Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. lf364@medschl.cam.ac.uk.
Background:
BOADICEA is a widely used algorithm for predicting breast and ovarian cancer risks, using a combination of genetic and lifestyle, hormonal and reproductive risk factors. However, it has largely been developed using data from White/European individuals, limiting its applicability to other ethnicities. Here, we updated BOADICEA to provide ethnicity-specific risk estimates.
Methods:
We utilised data from multiple sources to derive estimates for the distributions and effect sizes of risk factors in major UK ethnic groups (White, Black, South Asian, East Asian, and Mixed), along with ethnicity-specific population cancer incidences. We also developed a method for deriving adjusted polygenic scores for individuals of mixed genetic ancestry.
Results:
The predicted average absolute risks were smaller in all non-White ethnic groups than in Whites, and the risk distributions were narrower. The proportion of women classified as at moderate or high risk of breast or ovarian cancer, according to national guidelines, was considerably smaller in non-Whites.
Discussion:
The updated BOADICEA, available in the CanRisk tool ( www.canrisk.org ), is based on more appropriate estimates for non-White women in the UK. Further validation of the model in prospective studies is required. Considering these findings, risk classification guidelines for non-White women may need to be revised.
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